Canonical Allele Identifier: CA399479056

Gene: HAP1

Linked Data

• MyVariant Identifiers: chr17:g.39883384C>T (hg19) ; chr17:g.41727132C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41727132C>T , CM000679.2:g.41727132C>T	GRCh38
NC_000017.10:g.39883384C>T , CM000679.1:g.39883384C>T	GRCh37
NC_000017.9:g.37136910C>T	NCBI36
NG_009090.2:g.64581G>A , LRG_401:g.64581G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347901.9:c.1288G>A MANE Select	ENSP00000334002.4:p.Gly430Ser
ENST00000310778.5:c.1444G>A	ENSP00000309392.5:p.Gly482Ser
ENST00000341193.9:c.1237G>A	ENSP00000343170.5:p.Gly413Ser
ENST00000347901.8:c.1288G>A	ENSP00000334002.4:p.Gly430Ser
ENST00000393939.6:c.1213G>A	ENSP00000377513.2:p.Gly405Ser
NM_001079870.1:c.1237G>A	NP_001073339.1:p.Gly413Ser
NM_001079871.1:c.1213G>A	NP_001073340.1:p.Gly405Ser
NM_177977.2:c.1288G>A	NP_817084.2:p.Gly430Ser
NM_001367459.1:c.1384G>A	NP_001354388.1:p.Gly462Ser
NM_001367460.1:c.1348G>A	NP_001354389.1:p.Gly450Ser
NM_001367461.1:c.1213G>A	NP_001354390.1:p.Gly405Ser
NM_001367462.1:c.1213G>A	NP_001354391.1:p.Gly405Ser
NM_177977.3:c.1288G>A MANE Select	NP_817084.2:p.Gly430Ser