Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.31789840T>G , CM000673.2:g.31789840T>G	GRCh38
NC_000011.9:g.31811388T>G , CM000673.1:g.31811388T>G	GRCh37
NC_000011.8:g.31767964T>G	NCBI36
NG_008679.1:g.33122A>C , LRG_720:g.33122A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379107.7:c.*94A>C (PAX6)	ENSP00000368401.2:n.*94A>C
ENST00000379109.7:c.*94A>C (PAX6)	ENSP00000368403.2:n.*94A>C
ENST00000379129.7:c.*94A>C (PAX6)	ENSP00000368424.2:n.*94A>C
ENST00000379132.8:c.*94A>C (PAX6)	ENSP00000368427.2:n.*94A>C
ENST00000419022.6:c.*94A>C (PAX6)	ENSP00000404100.1:n.*94A>C
ENST00000606377.7:c.*94A>C (PAX6)	ENSP00000480026.1:n.*94A>C
ENST00000638685.1:c.699A>C (PAX6)	ENSP00000492316.1:p.Glu233Asp
ENST00000638914.3:c.*94A>C (PAX6)	ENSP00000492315.2:n.*94A>C
ENST00000638963.1:c.1212A>C (PAX6)	ENSP00000491948.1:p.Glu404Asp
ENST00000638965.1:c.*94A>C (PAX6)	ENSP00000492769.1:n.*94A>C
ENST00000639386.2:c.*94A>C (PAX6)	ENSP00000492658.1:n.*94A>C
ENST00000639409.1:c.*94A>C (PAX6)	ENSP00000492476.1:n.*94A>C
ENST00000639916.1:c.*94A>C (PAX6)	ENSP00000490963.1:n.*94A>C
ENST00000640368.2:c.*94A>C (PAX6) MANE Select	ENSP00000492024.1:n.*94A>C
ENST00000640610.1:c.*94A>C (PAX6)	ENSP00000491295.1:n.*94A>C
ENST00000640961.2:c.*6316T>G (ELP4) MANE Select	ENSP00000492152.1:n.*6316T>G
ENST00000640975.1:c.*94A>C (PAX6)	ENSP00000491872.1:n.*94A>C
ENST00000643871.1:c.*94A>C (PAX6)	ENSP00000495109.1:n.*94A>C
ENST00000379107.6:c.*94A>C (PAX6)	ENSP00000368401.2:n.*94A>C
ENST00000379129.6:c.*94A>C (PAX6)	ENSP00000368424.2:n.*94A>C
ENST00000379132.7:c.*94A>C (PAX6)	ENSP00000368427.2:n.*94A>C
ENST00000419022.5:c.*94A>C (PAX6)	ENSP00000404100.1:n.*94A>C
ENST00000464174.5:n.969A>C (PAX6)
ENST00000606377.5:c.*94A>C (PAX6)	ENSP00000480026.1:n.*94A>C
NM_000280.4:c.*94A>C (PAX6)	NP_000271.1:n.*94A>C
NM_001127612.1:c.*94A>C (PAX6)	NP_001121084.1:n.*94A>C
NM_001258462.1:c.*94A>C (PAX6)	NP_001245391.1:n.*94A>C
NM_001258463.1:c.*94A>C (PAX6)	NP_001245392.1:n.*94A>C
NM_001258464.1:c.*94A>C (PAX6)	NP_001245393.1:n.*94A>C
NM_001258465.1:c.*94A>C (PAX6)	NP_001245394.1:n.*94A>C
NM_001310158.1:c.*94A>C (PAX6)	NP_001297087.1:n.*94A>C
NM_001310160.1:c.*94A>C (PAX6)	NP_001297089.1:n.*94A>C
NM_001310161.1:c.*94A>C (PAX6)	NP_001297090.1:n.*94A>C
NM_001604.5:c.*94A>C (PAX6)	NP_001595.2:n.*94A>C
XM_005252954.3:c.*94A>C (PAX6)	XP_005253011.1:n.*94A>C
XM_005252955.3:c.*94A>C (PAX6)	XP_005253012.1:n.*94A>C
XM_005252956.3:c.*94A>C (PAX6)	XP_005253013.1:n.*94A>C
XM_005252958.3:c.*94A>C (PAX6)	XP_005253015.1:n.*94A>C
XM_006718246.2:c.*94A>C (PAX6)	XP_006718309.1:n.*94A>C
XM_011520146.1:c.*94A>C (PAX6)	XP_011518448.1:n.*94A>C
XM_011520147.1:c.*94A>C (PAX6)	XP_011518449.1:n.*94A>C
XM_011520148.1:c.*94A>C (PAX6)	XP_011518450.1:n.*94A>C
XM_011520149.1:c.*94A>C (PAX6)	XP_011518451.1:n.*94A>C
XM_011520150.1:c.*94A>C (PAX6)	XP_011518452.1:n.*94A>C
XM_011520151.1:c.*94A>C (PAX6)	XP_011518453.1:n.*94A>C
XM_011520152.1:c.*94A>C (PAX6)	XP_011518454.1:n.*94A>C
XM_011520153.1:c.*94A>C (PAX6)	XP_011518455.1:n.*94A>C
NM_019040.5:c.*6316T>G (ELP4) MANE Select	NP_061913.3:n.*6316T>G
NM_001127612.2:c.*94A>C (PAX6)	NP_001121084.1:n.*94A>C
NM_001258462.2:c.*94A>C (PAX6)	NP_001245391.1:n.*94A>C
NM_001258465.2:c.*94A>C (PAX6)	NP_001245394.1:n.*94A>C
NM_001288725.2:c.*6302T>G (ELP4)	NP_001275654.1:n.*6302T>G
NM_001288726.2:c.*6411T>G (ELP4)	NP_001275655.1:n.*6411T>G
NM_001310161.2:c.*94A>C (PAX6)	NP_001297090.1:n.*94A>C
NM_001368887.1:c.*94A>C (PAX6)	NP_001355816.1:n.*94A>C
NM_001368888.1:c.*94A>C (PAX6)	NP_001355817.1:n.*94A>C
NM_001368889.1:c.*94A>C (PAX6)	NP_001355818.1:n.*94A>C
NM_001368890.1:c.*94A>C (PAX6)	NP_001355819.1:n.*94A>C
NM_001368891.1:c.*94A>C (PAX6)	NP_001355820.1:n.*94A>C
NM_001368892.1:c.*94A>C (PAX6)	NP_001355821.1:n.*94A>C
NM_001368893.1:c.*94A>C (PAX6)	NP_001355822.1:n.*94A>C
NM_001368894.1:c.*94A>C (PAX6)	NP_001355823.1:n.*94A>C
NM_001368899.1:c.*94A>C (PAX6)	NP_001355828.1:n.*94A>C
NM_001368900.1:c.*94A>C (PAX6)	NP_001355829.1:n.*94A>C
NM_001368901.1:c.*94A>C (PAX6)	NP_001355830.1:n.*94A>C
NM_001368902.1:c.*94A>C (PAX6)	NP_001355831.1:n.*94A>C
NM_001368903.1:c.*94A>C (PAX6)	NP_001355832.1:n.*94A>C
NM_001368904.1:c.*94A>C (PAX6)	NP_001355833.1:n.*94A>C
NM_001368905.1:c.*94A>C (PAX6)	NP_001355834.1:n.*94A>C
NM_001368906.1:c.*94A>C (PAX6)	NP_001355835.1:n.*94A>C
NM_001368907.1:c.*94A>C (PAX6)	NP_001355836.1:n.*94A>C
NM_001368908.1:c.*94A>C (PAX6)	NP_001355837.1:n.*94A>C
NM_001368909.1:c.*94A>C (PAX6)	NP_001355838.1:n.*94A>C
NM_001368910.1:c.*94A>C (PAX6)	NP_001355839.1:n.*94A>C
NM_001368911.1:c.1257A>C (PAX6)	NP_001355840.1:p.Glu419Asp
NM_001368912.1:c.1254A>C (PAX6)	NP_001355841.1:p.Glu418Asp
NM_001368913.1:c.1254A>C (PAX6)	NP_001355842.1:p.Glu418Asp
NM_001368914.1:c.1254A>C (PAX6)	NP_001355843.1:p.Glu418Asp
NM_001368915.1:c.1212A>C (PAX6)	NP_001355844.1:p.Glu404Asp
NM_001368916.1:c.1212A>C (PAX6)	NP_001355845.1:p.Glu404Asp
NM_001368917.1:c.1212A>C (PAX6)	NP_001355846.1:p.Glu404Asp
NM_001368918.1:c.*94A>C (PAX6)	NP_001355847.1:n.*94A>C
NM_001368919.1:c.*94A>C (PAX6)	NP_001355848.1:n.*94A>C
NM_001368920.1:c.*94A>C (PAX6)	NP_001355849.1:n.*94A>C
NM_001368921.1:c.1053A>C (PAX6)	NP_001355850.1:p.Glu351Asp
NM_001368922.1:c.*94A>C (PAX6)	NP_001355851.1:n.*94A>C
NM_001368923.1:c.*94A>C (PAX6)	NP_001355852.1:n.*94A>C
NM_001368924.1:c.*94A>C (PAX6)	NP_001355853.1:n.*94A>C
NM_001368925.1:c.*94A>C (PAX6)	NP_001355854.1:n.*94A>C
NM_001368926.1:c.*94A>C (PAX6)	NP_001355855.1:n.*94A>C
NM_001368927.1:c.*94A>C (PAX6)	NP_001355856.1:n.*94A>C
NM_001368928.1:c.*94A>C (PAX6)	NP_001355857.1:n.*94A>C
NM_001368929.1:c.804A>C (PAX6)	NP_001355858.1:p.Glu268Asp
NM_001368930.1:c.*94A>C (PAX6)	NP_001355859.1:n.*94A>C
NR_160916.1:n.1593A>C (PAX6)
NR_160917.1:n.1749A>C (PAX6)
NM_000280.5:c.*94A>C (PAX6)	NP_000271.1:n.*94A>C
NM_001127612.3:c.*94A>C (PAX6)	NP_001121084.1:n.*94A>C
NM_001258462.3:c.*94A>C (PAX6)	NP_001245391.1:n.*94A>C
NM_001258463.2:c.*94A>C (PAX6)	NP_001245392.1:n.*94A>C
NM_001258464.2:c.*94A>C (PAX6)	NP_001245393.1:n.*94A>C
NM_001258465.3:c.*94A>C (PAX6)	NP_001245394.1:n.*94A>C
NM_001310158.2:c.*94A>C (PAX6)	NP_001297087.1:n.*94A>C
NM_001310160.2:c.*94A>C (PAX6)	NP_001297089.1:n.*94A>C
NM_001310161.3:c.*94A>C (PAX6)	NP_001297090.1:n.*94A>C
NM_001368887.2:c.*94A>C (PAX6)	NP_001355816.1:n.*94A>C
NM_001368888.2:c.*94A>C (PAX6)	NP_001355817.1:n.*94A>C
NM_001368889.2:c.*94A>C (PAX6)	NP_001355818.1:n.*94A>C
NM_001368890.2:c.*94A>C (PAX6)	NP_001355819.1:n.*94A>C
NM_001368891.2:c.*94A>C (PAX6)	NP_001355820.1:n.*94A>C
NM_001368892.2:c.*94A>C (PAX6)	NP_001355821.1:n.*94A>C
NM_001368893.2:c.*94A>C (PAX6)	NP_001355822.1:n.*94A>C
NM_001368894.2:c.*94A>C (PAX6) MANE Select	NP_001355823.1:n.*94A>C
NM_001368899.2:c.*94A>C (PAX6)	NP_001355828.1:n.*94A>C
NM_001368900.2:c.*94A>C (PAX6)	NP_001355829.1:n.*94A>C
NM_001368901.2:c.*94A>C (PAX6)	NP_001355830.1:n.*94A>C
NM_001368902.2:c.*94A>C (PAX6)	NP_001355831.1:n.*94A>C
NM_001368903.2:c.*94A>C (PAX6)	NP_001355832.1:n.*94A>C
NM_001368904.2:c.*94A>C (PAX6)	NP_001355833.1:n.*94A>C
NM_001368905.2:c.*94A>C (PAX6)	NP_001355834.1:n.*94A>C
NM_001368906.2:c.*94A>C (PAX6)	NP_001355835.1:n.*94A>C
NM_001368907.2:c.*94A>C (PAX6)	NP_001355836.1:n.*94A>C
NM_001368908.2:c.*94A>C (PAX6)	NP_001355837.1:n.*94A>C
NM_001368909.2:c.*94A>C (PAX6)	NP_001355838.1:n.*94A>C
NM_001368910.2:c.*94A>C (PAX6)	NP_001355839.1:n.*94A>C
NM_001368911.2:c.1257A>C (PAX6)	NP_001355840.1:p.Glu419Asp
NM_001368912.2:c.1254A>C (PAX6)	NP_001355841.1:p.Glu418Asp
NM_001368913.2:c.1254A>C (PAX6)	NP_001355842.1:p.Glu418Asp
NM_001368914.2:c.1254A>C (PAX6)	NP_001355843.1:p.Glu418Asp
NM_001368915.2:c.1212A>C (PAX6)	NP_001355844.1:p.Glu404Asp
NM_001368916.2:c.1212A>C (PAX6)	NP_001355845.1:p.Glu404Asp
NM_001368917.2:c.1212A>C (PAX6)	NP_001355846.1:p.Glu404Asp
NM_001368918.2:c.*94A>C (PAX6)	NP_001355847.1:n.*94A>C
NM_001368919.2:c.*94A>C (PAX6)	NP_001355848.1:n.*94A>C
NM_001368920.2:c.*94A>C (PAX6)	NP_001355849.1:n.*94A>C
NM_001368921.2:c.1053A>C (PAX6)	NP_001355850.1:p.Glu351Asp
NM_001368922.2:c.*94A>C (PAX6)	NP_001355851.1:n.*94A>C
NM_001368923.2:c.*94A>C (PAX6)	NP_001355852.1:n.*94A>C
NM_001368924.2:c.*94A>C (PAX6)	NP_001355853.1:n.*94A>C
NM_001368925.2:c.*94A>C (PAX6)	NP_001355854.1:n.*94A>C
NM_001368926.2:c.*94A>C (PAX6)	NP_001355855.1:n.*94A>C
NM_001368927.2:c.*94A>C (PAX6)	NP_001355856.1:n.*94A>C
NM_001368928.2:c.*94A>C (PAX6)	NP_001355857.1:n.*94A>C
NM_001368929.2:c.804A>C (PAX6)	NP_001355858.1:p.Glu268Asp
NM_001368930.2:c.*94A>C (PAX6)	NP_001355859.1:n.*94A>C
NM_001604.6:c.*94A>C (PAX6)	NP_001595.2:n.*94A>C
NR_160916.2:n.1593A>C (PAX6)
NR_160917.2:n.1749A>C (PAX6)
NM_000280.6:c.*94A>C (PAX6)	NP_000271.1:n.*94A>C