Canonical Allele Identifier: CA220594

Gene: PAX6

Linked Data

• ClinVar Variation Id: 92758
• ClinVar RCV Id: RCV000078543 ; RCV000984403 ; RCV000707094 ; RCV004537306
• dbSNP Id: rs398123295
• COSMIC: COSM1219377
• MyVariant Identifiers: chr11:g.31823108C>T (hg19) ; chr11:g.31801560C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.31801560C>T , CM000673.2:g.31801560C>T	GRCh38
NC_000011.9:g.31823108C>T , CM000673.1:g.31823108C>T	GRCh37
NC_000011.8:g.31779684C>T	NCBI36
NG_008679.1:g.21402G>A , LRG_720:g.21402G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241001.13:c.357+1G>A	ENSP00000241001.8:n.357+1G>A
ENST00000379107.7:c.399+1G>A	ENSP00000368401.2:n.399+1G>A
ENST00000379109.7:c.357+1G>A	ENSP00000368403.2:n.357+1G>A
ENST00000379111.7:c.357+1G>A	ENSP00000368406.3:n.357+1G>A
ENST00000379115.9:c.198+202G>A	ENSP00000368410.5:n.198+202G>A
ENST00000379123.10:c.-52+1G>A	ENSP00000368418.6:n.-52+1G>A
ENST00000379129.7:c.399+1G>A	ENSP00000368424.2:n.399+1G>A
ENST00000379132.8:c.357+1G>A	ENSP00000368427.2:n.357+1G>A
ENST00000419022.6:c.399+1G>A	ENSP00000404100.1:n.399+1G>A
ENST00000423822.7:c.198+202G>A	ENSP00000388132.3:n.198+202G>A
ENST00000438681.6:c.198+202G>A	ENSP00000404356.2:n.198+202G>A
ENST00000455099.6:c.399+1G>A	ENSP00000397384.2:n.399+1G>A
ENST00000470027.7:n.1974G>A
ENST00000471303.6:n.779+1G>A
ENST00000474783.2:n.887+1G>A
ENST00000481563.6:c.-52+1G>A	ENSP00000492205.1:n.-52+1G>A
ENST00000494377.7:n.460G>A
ENST00000524853.6:c.357+1G>A	ENSP00000431585.2:n.357+1G>A
ENST00000530714.6:n.554G>A
ENST00000531910.6:n.361G>A
ENST00000606377.7:c.399+1G>A	ENSP00000480026.1:n.399+1G>A
ENST00000638250.1:c.-52+1G>A	ENSP00000491365.1:n.-52+1G>A
ENST00000638346.1:c.-52+1G>A	ENSP00000491267.1:n.-52+1G>A
ENST00000638629.1:c.-382G>A	ENSP00000490971.1:n.-382G>A
ENST00000638685.1:c.10+4842G>A	ENSP00000492316.1:n.10+4842G>A
ENST00000638696.1:c.291+109G>A	ENSP00000492756.1:n.291+109G>A
ENST00000638755.1:c.249+109G>A	ENSP00000492181.1:n.249+109G>A
ENST00000638762.1:c.-52+1G>A	ENSP00000491517.1:n.-52+1G>A
ENST00000638802.1:c.-52+1G>A	ENSP00000492437.1:n.-52+1G>A
ENST00000638853.1:c.-149+202G>A	ENSP00000491280.1:n.-149+202G>A
ENST00000638878.1:c.-52+1G>A	ENSP00000492081.1:n.-52+1G>A
ENST00000638913.1:n.803G>A
ENST00000638914.3:c.399+1G>A	ENSP00000492315.2:n.399+1G>A
ENST00000638963.1:c.357+1G>A	ENSP00000491948.1:n.357+1G>A
ENST00000638965.1:c.-80-6772G>A	ENSP00000492769.1:n.-80-6772G>A
ENST00000639006.1:c.-149+1G>A	ENSP00000491210.1:n.-149+1G>A
ENST00000639034.2:c.357+1G>A	ENSP00000491679.1:n.357+1G>A
ENST00000639054.1:n.777G>A
ENST00000639061.1:c.-52+1G>A	ENSP00000491324.1:n.-52+1G>A
ENST00000639079.1:c.-52+1G>A	ENSP00000492129.1:n.-52+1G>A
ENST00000639109.1:c.-382G>A	ENSP00000491904.1:n.-382G>A
ENST00000639386.2:c.-52+1G>A	ENSP00000492658.1:n.-52+1G>A
ENST00000639394.1:c.400G>A	ENSP00000492177.1:p.Val134Ile
ENST00000639409.1:c.399+1G>A	ENSP00000492476.1:n.399+1G>A
ENST00000639548.1:c.-52+109G>A	ENSP00000491944.1:n.-52+109G>A
ENST00000639916.1:c.357+1G>A	ENSP00000490963.1:n.357+1G>A
ENST00000639943.1:c.198+202G>A	ENSP00000491229.1:n.198+202G>A
ENST00000639950.1:c.357+1G>A	ENSP00000491862.1:n.357+1G>A
ENST00000640125.1:c.-52+109G>A	ENSP00000492166.1:n.-52+109G>A
ENST00000640172.1:n.933G>A
ENST00000640242.1:c.360+1G>A	ENSP00000492409.1:n.360+1G>A
ENST00000640287.1:c.357+1G>A	ENSP00000492822.1:n.357+1G>A
ENST00000640335.1:c.10+4842G>A	ENSP00000492808.1:n.10+4842G>A
ENST00000640368.2:c.399+1G>A MANE Select	ENSP00000492024.1:n.399+1G>A
ENST00000640431.1:c.399+1G>A	ENSP00000491779.1:n.399+1G>A
ENST00000640460.1:c.357+1G>A	ENSP00000492802.1:n.357+1G>A
ENST00000640610.1:c.357+1G>A	ENSP00000491295.1:n.357+1G>A
ENST00000640613.1:c.198+202G>A	ENSP00000492587.1:n.198+202G>A
ENST00000640684.1:c.399+1G>A	ENSP00000491492.1:n.399+1G>A
ENST00000640735.1:n.432+1G>A
ENST00000640766.1:c.-52+1G>A	ENSP00000491214.1:n.-52+1G>A
ENST00000640872.1:c.-52+1G>A	ENSP00000491065.1:n.-52+1G>A
ENST00000640963.1:c.399+1G>A	ENSP00000492397.1:n.399+1G>A
ENST00000640975.1:c.399+1G>A	ENSP00000491872.1:n.399+1G>A
ENST00000643871.1:c.357+1G>A	ENSP00000495109.1:n.357+1G>A
ENST00000241001.12:c.357+1G>A	ENSP00000241001.8:n.357+1G>A
ENST00000379107.6:c.399+1G>A	ENSP00000368401.2:n.399+1G>A
ENST00000379109.6:c.357+1G>A	ENSP00000368403.2:n.357+1G>A
ENST00000379111.6:c.357+1G>A	ENSP00000368406.2:n.357+1G>A
ENST00000379115.8:c.399+1G>A	ENSP00000368410.4:n.399+1G>A
ENST00000379123.9:c.357+1G>A	ENSP00000368418.5:n.357+1G>A
ENST00000379129.6:c.399+1G>A	ENSP00000368424.2:n.399+1G>A
ENST00000379132.7:c.357+1G>A	ENSP00000368427.2:n.357+1G>A
ENST00000419022.5:c.399+1G>A	ENSP00000404100.1:n.399+1G>A
ENST00000455099.5:c.198+202G>A	ENSP00000397384.1:n.198+202G>A
ENST00000464174.5:n.130-6772G>A
ENST00000470027.6:n.1602G>A
ENST00000471303.5:n.440+1G>A
ENST00000481563.5:n.463+1G>A
ENST00000494377.6:n.847G>A
ENST00000533333.5:n.5263+1G>A
ENST00000534390.1:n.484+1G>A
ENST00000606377.5:c.399+1G>A	ENSP00000480026.1:n.399+1G>A
NM_000280.4:c.357+1G>A	NP_000271.1:n.357+1G>A
NM_001127612.1:c.357+1G>A	NP_001121084.1:n.357+1G>A
NM_001258462.1:c.399+1G>A	NP_001245391.1:n.399+1G>A
NM_001258463.1:c.399+1G>A	NP_001245392.1:n.399+1G>A
NM_001258464.1:c.357+1G>A	NP_001245393.1:n.357+1G>A
NM_001258465.1:c.357+1G>A	NP_001245394.1:n.357+1G>A
NM_001310158.1:c.399+1G>A	NP_001297087.1:n.399+1G>A
NM_001310159.1:c.357+1G>A	NP_001297088.1:n.357+1G>A
NM_001310160.1:c.-382G>A	NP_001297089.1:n.-382G>A
NM_001310161.1:c.-52+1G>A	NP_001297090.1:n.-52+1G>A
NM_001604.5:c.399+1G>A	NP_001595.2:n.399+1G>A
XM_005252954.3:c.399+1G>A	XP_005253011.1:n.399+1G>A
XM_005252955.3:c.357+1G>A	XP_005253012.1:n.357+1G>A
XM_005252956.3:c.357+1G>A	XP_005253013.1:n.357+1G>A
XM_005252958.3:c.-382G>A	XP_005253015.1:n.-382G>A
XM_006718246.2:c.156+202G>A	XP_006718309.1:n.156+202G>A
XM_011520146.1:c.603+1G>A	XP_011518448.1:n.603+1G>A
XM_011520147.1:c.561+1G>A	XP_011518449.1:n.561+1G>A
XM_011520148.1:c.402+202G>A	XP_011518450.1:n.402+202G>A
XM_011520149.1:c.399+1G>A	XP_011518451.1:n.399+1G>A
XM_011520150.1:c.399+1G>A	XP_011518452.1:n.399+1G>A
XM_011520151.1:c.360+202G>A	XP_011518453.1:n.360+202G>A
XM_011520152.1:c.198+202G>A	XP_011518454.1:n.198+202G>A
XM_011520153.1:c.-52+1G>A	XP_011518455.1:n.-52+1G>A
NM_001127612.2:c.357+1G>A	NP_001121084.1:n.357+1G>A
NM_001258462.2:c.399+1G>A	NP_001245391.1:n.399+1G>A
NM_001258465.2:c.357+1G>A	NP_001245394.1:n.357+1G>A
NM_001310161.2:c.-52+1G>A	NP_001297090.1:n.-52+1G>A
NM_001368887.1:c.357+1G>A	NP_001355816.1:n.357+1G>A
NM_001368888.1:c.357+1G>A	NP_001355817.1:n.357+1G>A
NM_001368889.1:c.357+1G>A	NP_001355818.1:n.357+1G>A
NM_001368890.1:c.357+1G>A	NP_001355819.1:n.357+1G>A
NM_001368891.1:c.357+1G>A	NP_001355820.1:n.357+1G>A
NM_001368892.1:c.399+1G>A	NP_001355821.1:n.399+1G>A
NM_001368893.1:c.399+1G>A	NP_001355822.1:n.399+1G>A
NM_001368894.1:c.399+1G>A	NP_001355823.1:n.399+1G>A
NM_001368899.1:c.-52+1G>A	NP_001355828.1:n.-52+1G>A
NM_001368900.1:c.-52+1G>A	NP_001355829.1:n.-52+1G>A
NM_001368901.1:c.-52+1G>A	NP_001355830.1:n.-52+1G>A
NM_001368902.1:c.-382G>A	NP_001355831.1:n.-382G>A
NM_001368903.1:c.-52+1G>A	NP_001355832.1:n.-52+1G>A
NM_001368904.1:c.-52+1G>A	NP_001355833.1:n.-52+1G>A
NM_001368905.1:c.-382G>A	NP_001355834.1:n.-382G>A
NM_001368906.1:c.-52+1G>A	NP_001355835.1:n.-52+1G>A
NM_001368907.1:c.-52+1G>A	NP_001355836.1:n.-52+1G>A
NM_001368908.1:c.-52+1G>A	NP_001355837.1:n.-52+1G>A
NM_001368909.1:c.-52+1G>A	NP_001355838.1:n.-52+1G>A
NM_001368910.1:c.600+1G>A	NP_001355839.1:n.600+1G>A
NM_001368911.1:c.402+1G>A	NP_001355840.1:n.402+1G>A
NM_001368912.1:c.399+1G>A	NP_001355841.1:n.399+1G>A
NM_001368913.1:c.399+1G>A	NP_001355842.1:n.399+1G>A
NM_001368914.1:c.399+1G>A	NP_001355843.1:n.399+1G>A
NM_001368915.1:c.357+1G>A	NP_001355844.1:n.357+1G>A
NM_001368916.1:c.357+1G>A	NP_001355845.1:n.357+1G>A
NM_001368917.1:c.357+1G>A	NP_001355846.1:n.357+1G>A
NM_001368918.1:c.474+1G>A	NP_001355847.1:n.474+1G>A
NM_001368919.1:c.474+1G>A	NP_001355848.1:n.474+1G>A
NM_001368920.1:c.432+1G>A	NP_001355849.1:n.432+1G>A
NM_001368921.1:c.198+202G>A	NP_001355850.1:n.198+202G>A
NM_001368922.1:c.198+202G>A	NP_001355851.1:n.198+202G>A
NM_001368923.1:c.198+202G>A	NP_001355852.1:n.198+202G>A
NM_001368924.1:c.198+202G>A	NP_001355853.1:n.198+202G>A
NM_001368925.1:c.198+202G>A	NP_001355854.1:n.198+202G>A
NM_001368926.1:c.198+202G>A	NP_001355855.1:n.198+202G>A
NM_001368927.1:c.198+202G>A	NP_001355856.1:n.198+202G>A
NM_001368928.1:c.156+202G>A	NP_001355857.1:n.156+202G>A
NM_001368929.1:c.-52+1G>A	NP_001355858.1:n.-52+1G>A
NR_160916.1:n.821+1G>A
NR_160917.1:n.826+1G>A
NM_000280.5:c.357+1G>A	NP_000271.1:n.357+1G>A
NM_001127612.3:c.357+1G>A	NP_001121084.1:n.357+1G>A
NM_001258462.3:c.399+1G>A	NP_001245391.1:n.399+1G>A
NM_001258463.2:c.399+1G>A	NP_001245392.1:n.399+1G>A
NM_001258464.2:c.357+1G>A	NP_001245393.1:n.357+1G>A
NM_001258465.3:c.357+1G>A	NP_001245394.1:n.357+1G>A
NM_001310158.2:c.399+1G>A	NP_001297087.1:n.399+1G>A
NM_001310160.2:c.-382G>A	NP_001297089.1:n.-382G>A
NM_001310161.3:c.-52+1G>A	NP_001297090.1:n.-52+1G>A
NM_001368887.2:c.357+1G>A	NP_001355816.1:n.357+1G>A
NM_001368888.2:c.357+1G>A	NP_001355817.1:n.357+1G>A
NM_001368889.2:c.357+1G>A	NP_001355818.1:n.357+1G>A
NM_001368890.2:c.357+1G>A	NP_001355819.1:n.357+1G>A
NM_001368891.2:c.357+1G>A	NP_001355820.1:n.357+1G>A
NM_001368892.2:c.399+1G>A	NP_001355821.1:n.399+1G>A
NM_001368893.2:c.399+1G>A	NP_001355822.1:n.399+1G>A
NM_001368894.2:c.399+1G>A MANE Select	NP_001355823.1:n.399+1G>A
NM_001368899.2:c.-52+1G>A	NP_001355828.1:n.-52+1G>A
NM_001368900.2:c.-52+1G>A	NP_001355829.1:n.-52+1G>A
NM_001368901.2:c.-52+1G>A	NP_001355830.1:n.-52+1G>A
NM_001368902.2:c.-382G>A	NP_001355831.1:n.-382G>A
NM_001368903.2:c.-52+1G>A	NP_001355832.1:n.-52+1G>A
NM_001368904.2:c.-52+1G>A	NP_001355833.1:n.-52+1G>A
NM_001368905.2:c.-382G>A	NP_001355834.1:n.-382G>A
NM_001368906.2:c.-52+1G>A	NP_001355835.1:n.-52+1G>A
NM_001368907.2:c.-52+1G>A	NP_001355836.1:n.-52+1G>A
NM_001368908.2:c.-52+1G>A	NP_001355837.1:n.-52+1G>A
NM_001368909.2:c.-52+1G>A	NP_001355838.1:n.-52+1G>A
NM_001368910.2:c.600+1G>A	NP_001355839.1:n.600+1G>A
NM_001368911.2:c.402+1G>A	NP_001355840.1:n.402+1G>A
NM_001368912.2:c.399+1G>A	NP_001355841.1:n.399+1G>A
NM_001368913.2:c.399+1G>A	NP_001355842.1:n.399+1G>A
NM_001368914.2:c.399+1G>A	NP_001355843.1:n.399+1G>A
NM_001368915.2:c.357+1G>A	NP_001355844.1:n.357+1G>A
NM_001368916.2:c.357+1G>A	NP_001355845.1:n.357+1G>A
NM_001368917.2:c.357+1G>A	NP_001355846.1:n.357+1G>A
NM_001368918.2:c.474+1G>A	NP_001355847.1:n.474+1G>A
NM_001368919.2:c.474+1G>A	NP_001355848.1:n.474+1G>A
NM_001368920.2:c.432+1G>A	NP_001355849.1:n.432+1G>A
NM_001368921.2:c.198+202G>A	NP_001355850.1:n.198+202G>A
NM_001368922.2:c.198+202G>A	NP_001355851.1:n.198+202G>A
NM_001368923.2:c.198+202G>A	NP_001355852.1:n.198+202G>A
NM_001368924.2:c.198+202G>A	NP_001355853.1:n.198+202G>A
NM_001368925.2:c.198+202G>A	NP_001355854.1:n.198+202G>A
NM_001368926.2:c.198+202G>A	NP_001355855.1:n.198+202G>A
NM_001368927.2:c.198+202G>A	NP_001355856.1:n.198+202G>A
NM_001368928.2:c.156+202G>A	NP_001355857.1:n.156+202G>A
NM_001368929.2:c.-52+1G>A	NP_001355858.1:n.-52+1G>A
NM_001604.6:c.399+1G>A	NP_001595.2:n.399+1G>A
NR_160916.2:n.821+1G>A
NR_160917.2:n.826+1G>A
NM_000280.6:c.357+1G>A	NP_000271.1:n.357+1G>A