Canonical Allele Identifier: CA2260155192

Gene: HAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41727068A= , CM000679.2:g.41727068A=	GRCh38
NC_000017.10:g.39883320A= , CM000679.1:g.39883320A=	GRCh37
NC_000017.9:g.37136846A=	NCBI36
NG_009090.2:g.64645T= , LRG_401:g.64645T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347901.9:c.1352T= MANE Select	ENSP00000334002.4:p.Val451=
ENST00000310778.5:c.1508T=	ENSP00000309392.5:p.Val503=
ENST00000341193.9:c.1301T=	ENSP00000343170.5:p.Val434=
ENST00000347901.8:c.1352T=	ENSP00000334002.4:p.Val451=
ENST00000393939.6:c.1277T=	ENSP00000377513.2:p.Val426=
NM_001079870.1:c.1301T=	NP_001073339.1:p.Val434=
NM_001079871.1:c.1277T=	NP_001073340.1:p.Val426=
NM_177977.2:c.1352T=	NP_817084.2:p.Val451=
NM_001367459.1:c.1448T=	NP_001354388.1:p.Val483=
NM_001367460.1:c.1412T=	NP_001354389.1:p.Val471=
NM_001367461.1:c.1277T=	NP_001354390.1:p.Val426=
NM_001367462.1:c.1277T=	NP_001354391.1:p.Val426=
NM_177977.3:c.1352T= MANE Select	NP_817084.2:p.Val451=