Canonical Allele Identifier: CA10575482

Gene: PAX6

Linked Data

• ClinVar Variation Id: 3482
• ClinVar RCV Id: RCV000003651 ; RCV003764525
• dbSNP Id: rs878852979
• MyVariant Identifiers: chr11:g.31832374A>T (hg19) ; chr11:g.31810826A>T (hg38)
• PubMed: PMID:17148041

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.31810826A>T , CM000673.2:g.31810826A>T	GRCh38
NC_000011.9:g.31832374A>T , CM000673.1:g.31832374A>T	GRCh37
NC_000011.8:g.31788950A>T	NCBI36
NG_008679.1:g.12136T>A , LRG_720:g.12136T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241001.13:c.-129+2T>A	ENSP00000241001.8:n.-129+2T>A
ENST00000379111.7:c.-129+2T>A	ENSP00000368406.3:n.-129+2T>A
ENST00000379115.9:c.-129+2T>A	ENSP00000368410.5:n.-129+2T>A
ENST00000379123.10:c.-680+2T>A	ENSP00000368418.6:n.-680+2T>A
ENST00000379129.7:c.-128-3901T>A	ENSP00000368424.2:n.-128-3901T>A
ENST00000379132.8:c.-128-3901T>A	ENSP00000368427.2:n.-128-3901T>A
ENST00000419022.6:c.-129+2T>A	ENSP00000404100.1:n.-129+2T>A
ENST00000423822.7:c.-129+2T>A	ENSP00000388132.3:n.-129+2T>A
ENST00000438681.6:c.-129+2T>A	ENSP00000404356.2:n.-129+2T>A
ENST00000455099.6:c.-129+2T>A	ENSP00000397384.2:n.-129+2T>A
ENST00000471303.6:n.294+2T>A
ENST00000474783.2:n.402+2T>A
ENST00000524853.6:c.-129+2T>A	ENSP00000431585.2:n.-129+2T>A
ENST00000525535.2:c.-129+1267T>A	ENSP00000436365.2:n.-129+1267T>A
ENST00000606377.7:c.-129+2T>A	ENSP00000480026.1:n.-129+2T>A
ENST00000638250.1:c.-406+2T>A	ENSP00000491365.1:n.-406+2T>A
ENST00000638685.1:c.-129+1267T>A	ENSP00000492316.1:n.-129+1267T>A
ENST00000638913.1:n.317+2T>A
ENST00000638914.3:c.-129+2T>A	ENSP00000492315.2:n.-129+2T>A
ENST00000638965.1:c.-81+6983T>A	ENSP00000492769.1:n.-81+6983T>A
ENST00000639034.2:c.-129+2T>A	ENSP00000491679.1:n.-129+2T>A
ENST00000639054.1:n.291+2T>A
ENST00000639394.1:c.-129+2T>A	ENSP00000492177.1:n.-129+2T>A
ENST00000639409.1:c.-129+2T>A	ENSP00000492476.1:n.-129+2T>A
ENST00000639916.1:c.-129+2T>A	ENSP00000490963.1:n.-129+2T>A
ENST00000639950.1:c.-129+2T>A	ENSP00000491862.1:n.-129+2T>A
ENST00000640172.1:n.405+2T>A
ENST00000640242.1:c.13+2T>A	ENSP00000492409.1:n.13+2T>A
ENST00000640251.1:n.443+2T>A
ENST00000640368.2:c.-129+2T>A MANE Select	ENSP00000492024.1:n.-129+2T>A
ENST00000640431.1:c.-129+2T>A	ENSP00000491779.1:n.-129+2T>A
ENST00000640610.1:c.-129+2T>A	ENSP00000491295.1:n.-129+2T>A
ENST00000640613.1:c.-129+2T>A	ENSP00000492587.1:n.-129+2T>A
ENST00000640617.1:n.97+2T>A
ENST00000640684.1:c.-129+2T>A	ENSP00000491492.1:n.-129+2T>A
ENST00000640975.1:c.-129+2T>A	ENSP00000491872.1:n.-129+2T>A
ENST00000643871.1:c.-129+2T>A	ENSP00000495109.1:n.-129+2T>A
ENST00000241001.12:c.-129+2T>A	ENSP00000241001.8:n.-129+2T>A
ENST00000379111.6:c.-129+2T>A	ENSP00000368406.2:n.-129+2T>A
ENST00000379115.8:c.-129+2T>A	ENSP00000368410.4:n.-129+2T>A
ENST00000379123.9:c.-129+2T>A	ENSP00000368418.5:n.-129+2T>A
ENST00000379129.6:c.-128-3901T>A	ENSP00000368424.2:n.-128-3901T>A
ENST00000379132.7:c.-128-3901T>A	ENSP00000368427.2:n.-128-3901T>A
ENST00000419022.5:c.-129+2T>A	ENSP00000404100.1:n.-129+2T>A
ENST00000423822.6:c.-129+2T>A	ENSP00000388132.2:n.-129+2T>A
ENST00000438681.5:c.-129+2T>A	ENSP00000404356.1:n.-129+2T>A
ENST00000464174.5:n.129+6983T>A
ENST00000524853.5:c.-129+2T>A	ENSP00000431585.1:n.-129+2T>A
ENST00000525535.1:c.-129+2T>A	ENSP00000436365.1:n.-129+2T>A
ENST00000527769.5:n.291+2T>A
ENST00000532175.5:n.328+2T>A
ENST00000533333.5:n.284+2T>A
ENST00000606377.5:c.-129+2T>A	ENSP00000480026.1:n.-129+2T>A
NM_000280.4:c.-129+2T>A	NP_000271.1:n.-129+2T>A
NM_001127612.1:c.-129+2T>A	NP_001121084.1:n.-129+2T>A
NM_001258462.1:c.-129+2T>A	NP_001245391.1:n.-129+2T>A
NM_001258463.1:c.-129+2T>A	NP_001245392.1:n.-129+2T>A
NM_001258464.1:c.-129+2T>A	NP_001245393.1:n.-129+2T>A
NM_001258465.1:c.-129+2T>A	NP_001245394.1:n.-129+2T>A
NM_001310158.1:c.-129+2T>A	NP_001297087.1:n.-129+2T>A
NM_001604.5:c.-129+2T>A	NP_001595.2:n.-129+2T>A
XM_005252954.3:c.-129+2T>A	XP_005253011.1:n.-129+2T>A
XM_005252955.3:c.-129+2T>A	XP_005253012.1:n.-129+2T>A
XM_006718246.2:c.-129+2T>A	XP_006718309.1:n.-129+2T>A
XM_011520149.1:c.-129+2T>A	XP_011518451.1:n.-129+2T>A
XM_011520152.1:c.-129+2T>A	XP_011518454.1:n.-129+2T>A
NM_001127612.2:c.-129+2T>A	NP_001121084.1:n.-129+2T>A
NM_001258462.2:c.-129+2T>A	NP_001245391.1:n.-129+2T>A
NM_001258465.2:c.-129+2T>A	NP_001245394.1:n.-129+2T>A
NM_001368887.1:c.-129+2T>A	NP_001355816.1:n.-129+2T>A
NM_001368888.1:c.-129+2T>A	NP_001355817.1:n.-129+2T>A
NM_001368890.1:c.-129+2T>A	NP_001355819.1:n.-129+2T>A
NM_001368892.1:c.-129+2T>A	NP_001355821.1:n.-129+2T>A
NM_001368893.1:c.-129+2T>A	NP_001355822.1:n.-129+2T>A
NM_001368894.1:c.-129+2T>A	NP_001355823.1:n.-129+2T>A
NM_001368904.1:c.-406+2T>A	NP_001355833.1:n.-406+2T>A
NM_001368905.1:c.-910+2T>A	NP_001355834.1:n.-910+2T>A
NM_001368909.1:c.-268+2T>A	NP_001355838.1:n.-268+2T>A
NM_001368910.1:c.-29+2T>A	NP_001355839.1:n.-29+2T>A
NM_001368911.1:c.13+2T>A	NP_001355840.1:n.13+2T>A
NM_001368912.1:c.-129+2T>A	NP_001355841.1:n.-129+2T>A
NM_001368913.1:c.-129+2T>A	NP_001355842.1:n.-129+2T>A
NM_001368914.1:c.-129+2T>A	NP_001355843.1:n.-129+2T>A
NM_001368915.1:c.-129+2T>A	NP_001355844.1:n.-129+2T>A
NM_001368916.1:c.-129+2T>A	NP_001355845.1:n.-129+2T>A
NM_001368917.1:c.-129+2T>A	NP_001355846.1:n.-129+2T>A
NM_001368918.1:c.-129+2T>A	NP_001355847.1:n.-129+2T>A
NM_001368919.1:c.-129+2T>A	NP_001355848.1:n.-129+2T>A
NM_001368920.1:c.-129+2T>A	NP_001355849.1:n.-129+2T>A
NM_001368921.1:c.-129+2T>A	NP_001355850.1:n.-129+2T>A
NM_001368922.1:c.-129+2T>A	NP_001355851.1:n.-129+2T>A
NM_001368923.1:c.-129+2T>A	NP_001355852.1:n.-129+2T>A
NM_001368925.1:c.-129+2T>A	NP_001355854.1:n.-129+2T>A
NM_001368926.1:c.-129+2T>A	NP_001355855.1:n.-129+2T>A
NM_001368927.1:c.-129+2T>A	NP_001355856.1:n.-129+2T>A
NM_001368928.1:c.-129+2T>A	NP_001355857.1:n.-129+2T>A
NR_160916.1:n.294+2T>A
NR_160917.1:n.341+2T>A
NM_000280.5:c.-129+2T>A	NP_000271.1:n.-129+2T>A
NM_001127612.3:c.-129+2T>A	NP_001121084.1:n.-129+2T>A
NM_001258462.3:c.-129+2T>A	NP_001245391.1:n.-129+2T>A
NM_001258463.2:c.-129+2T>A	NP_001245392.1:n.-129+2T>A
NM_001258464.2:c.-129+2T>A	NP_001245393.1:n.-129+2T>A
NM_001258465.3:c.-129+2T>A	NP_001245394.1:n.-129+2T>A
NM_001310158.2:c.-129+2T>A	NP_001297087.1:n.-129+2T>A
NM_001368887.2:c.-129+2T>A	NP_001355816.1:n.-129+2T>A
NM_001368888.2:c.-129+2T>A	NP_001355817.1:n.-129+2T>A
NM_001368890.2:c.-129+2T>A	NP_001355819.1:n.-129+2T>A
NM_001368892.2:c.-129+2T>A	NP_001355821.1:n.-129+2T>A
NM_001368893.2:c.-129+2T>A	NP_001355822.1:n.-129+2T>A
NM_001368894.2:c.-129+2T>A MANE Select	NP_001355823.1:n.-129+2T>A
NM_001368904.2:c.-406+2T>A	NP_001355833.1:n.-406+2T>A
NM_001368905.2:c.-910+2T>A	NP_001355834.1:n.-910+2T>A
NM_001368909.2:c.-268+2T>A	NP_001355838.1:n.-268+2T>A
NM_001368910.2:c.-29+2T>A	NP_001355839.1:n.-29+2T>A
NM_001368911.2:c.13+2T>A	NP_001355840.1:n.13+2T>A
NM_001368912.2:c.-129+2T>A	NP_001355841.1:n.-129+2T>A
NM_001368913.2:c.-129+2T>A	NP_001355842.1:n.-129+2T>A
NM_001368914.2:c.-129+2T>A	NP_001355843.1:n.-129+2T>A
NM_001368915.2:c.-129+2T>A	NP_001355844.1:n.-129+2T>A
NM_001368916.2:c.-129+2T>A	NP_001355845.1:n.-129+2T>A
NM_001368917.2:c.-129+2T>A	NP_001355846.1:n.-129+2T>A
NM_001368918.2:c.-129+2T>A	NP_001355847.1:n.-129+2T>A
NM_001368919.2:c.-129+2T>A	NP_001355848.1:n.-129+2T>A
NM_001368920.2:c.-129+2T>A	NP_001355849.1:n.-129+2T>A
NM_001368921.2:c.-129+2T>A	NP_001355850.1:n.-129+2T>A
NM_001368922.2:c.-129+2T>A	NP_001355851.1:n.-129+2T>A
NM_001368923.2:c.-129+2T>A	NP_001355852.1:n.-129+2T>A
NM_001368925.2:c.-129+2T>A	NP_001355854.1:n.-129+2T>A
NM_001368926.2:c.-129+2T>A	NP_001355855.1:n.-129+2T>A
NM_001368927.2:c.-129+2T>A	NP_001355856.1:n.-129+2T>A
NM_001368928.2:c.-129+2T>A	NP_001355857.1:n.-129+2T>A
NM_001604.6:c.-129+2T>A	NP_001595.2:n.-129+2T>A
NR_160916.2:n.294+2T>A
NR_160917.2:n.341+2T>A
NM_000280.6:c.-129+2T>A	NP_000271.1:n.-129+2T>A