Canonical Allele Identifier: CA2260155151

Gene: HAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41727010A= , CM000679.2:g.41727010A=	GRCh38
NC_000017.10:g.39883262A= , CM000679.1:g.39883262A=	GRCh37
NC_000017.9:g.37136788A=	NCBI36
NG_009090.2:g.64703T= , LRG_401:g.64703T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000347901.9:c.1367+43T= MANE Select	ENSP00000334002.4:n.1367+43T=
ENST00000310778.5:c.1523+43T=	ENSP00000309392.5:n.1523+43T=
ENST00000341193.9:c.1316+43T=	ENSP00000343170.5:n.1316+43T=
ENST00000347901.8:c.1367+43T=	ENSP00000334002.4:n.1367+43T=
ENST00000393939.6:c.1292+43T=	ENSP00000377513.2:n.1292+43T=
NM_001079870.1:c.1316+43T=	NP_001073339.1:n.1316+43T=
NM_001079871.1:c.1292+43T=	NP_001073340.1:n.1292+43T=
NM_177977.2:c.1367+43T=	NP_817084.2:n.1367+43T=
NM_001367459.1:c.1463+43T=	NP_001354388.1:n.1463+43T=
NM_001367460.1:c.1427+43T=	NP_001354389.1:n.1427+43T=
NM_001367461.1:c.1292+43T=	NP_001354390.1:n.1292+43T=
NM_001367462.1:c.1292+43T=	NP_001354391.1:n.1292+43T=
NM_177977.3:c.1367+43T= MANE Select	NP_817084.2:n.1367+43T=