Canonical Allele Identifier: CA2576268440

Gene: HAP1

Linked Data

• gnomAD v4: 17-41727004-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41727004A>T , CM000679.2:g.41727004A>T	GRCh38
NC_000017.10:g.39883256A>T , CM000679.1:g.39883256A>T	GRCh37
NC_000017.9:g.37136782A>T	NCBI36
NG_009090.2:g.64709T>A , LRG_401:g.64709T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000347901.9:c.1367+49T>A MANE Select	ENSP00000334002.4:n.1367+49T>A
ENST00000310778.5:c.1523+49T>A	ENSP00000309392.5:n.1523+49T>A
ENST00000341193.9:c.1316+49T>A	ENSP00000343170.5:n.1316+49T>A
ENST00000347901.8:c.1367+49T>A	ENSP00000334002.4:n.1367+49T>A
ENST00000393939.6:c.1292+49T>A	ENSP00000377513.2:n.1292+49T>A
NM_001079870.1:c.1316+49T>A	NP_001073339.1:n.1316+49T>A
NM_001079871.1:c.1292+49T>A	NP_001073340.1:n.1292+49T>A
NM_177977.2:c.1367+49T>A	NP_817084.2:n.1367+49T>A
NM_001367459.1:c.1463+49T>A	NP_001354388.1:n.1463+49T>A
NM_001367460.1:c.1427+49T>A	NP_001354389.1:n.1427+49T>A
NM_001367461.1:c.1292+49T>A	NP_001354390.1:n.1292+49T>A
NM_001367462.1:c.1292+49T>A	NP_001354391.1:n.1292+49T>A
NM_177977.3:c.1367+49T>A MANE Select	NP_817084.2:n.1367+49T>A