Canonical Allele Identifier: CA399478941

Gene: HAP1

Linked Data

• dbSNP Id: rs868987747
• gnomAD v4: 17-41727106-C-A
• MyVariant Identifiers: chr17:g.39883358C>A (hg19) ; chr17:g.41727106C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41727106C>A , CM000679.2:g.41727106C>A	GRCh38
NC_000017.10:g.39883358C>A , CM000679.1:g.39883358C>A	GRCh37
NC_000017.9:g.37136884C>A	NCBI36
NG_009090.2:g.64607G>T , LRG_401:g.64607G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347901.9:c.1314G>T MANE Select	ENSP00000334002.4:p.Glu438Asp
ENST00000310778.5:c.1470G>T	ENSP00000309392.5:p.Glu490Asp
ENST00000341193.9:c.1263G>T	ENSP00000343170.5:p.Glu421Asp
ENST00000347901.8:c.1314G>T	ENSP00000334002.4:p.Glu438Asp
ENST00000393939.6:c.1239G>T	ENSP00000377513.2:p.Glu413Asp
NM_001079870.1:c.1263G>T	NP_001073339.1:p.Glu421Asp
NM_001079871.1:c.1239G>T	NP_001073340.1:p.Glu413Asp
NM_177977.2:c.1314G>T	NP_817084.2:p.Glu438Asp
NM_001367459.1:c.1410G>T	NP_001354388.1:p.Glu470Asp
NM_001367460.1:c.1374G>T	NP_001354389.1:p.Glu458Asp
NM_001367461.1:c.1239G>T	NP_001354390.1:p.Glu413Asp
NM_001367462.1:c.1239G>T	NP_001354391.1:p.Glu413Asp
NM_177977.3:c.1314G>T MANE Select	NP_817084.2:p.Glu438Asp