Canonical Allele Identifier: CA2260155217

Gene: HAP1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347901.9:c.1314G= MANE Select	ENSP00000334002.4:p.Glu438=
ENST00000310778.5:c.1470G=	ENSP00000309392.5:p.Glu490=
ENST00000341193.9:c.1263G=	ENSP00000343170.5:p.Glu421=
ENST00000347901.8:c.1314G=	ENSP00000334002.4:p.Glu438=
ENST00000393939.6:c.1239G=	ENSP00000377513.2:p.Glu413=
NM_001079870.1:c.1263G=	NP_001073339.1:p.Glu421=
NM_001079871.1:c.1239G=	NP_001073340.1:p.Glu413=
NM_177977.2:c.1314G=	NP_817084.2:p.Glu438=
NM_001367459.1:c.1410G=	NP_001354388.1:p.Glu470=
NM_001367460.1:c.1374G=	NP_001354389.1:p.Glu458=
NM_001367461.1:c.1239G=	NP_001354390.1:p.Glu413=
NM_001367462.1:c.1239G=	NP_001354391.1:p.Glu413=
NM_177977.3:c.1314G= MANE Select	NP_817084.2:p.Glu438=