Canonical Allele Identifier: CA399478958

Gene: HAP1

Linked Data

• MyVariant Identifiers: chr17:g.39883359T>G (hg19) ; chr17:g.41727107T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41727107T>G , CM000679.2:g.41727107T>G	GRCh38
NC_000017.10:g.39883359T>G , CM000679.1:g.39883359T>G	GRCh37
NC_000017.9:g.37136885T>G	NCBI36
NG_009090.2:g.64606A>C , LRG_401:g.64606A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347901.9:c.1313A>C MANE Select	ENSP00000334002.4:p.Glu438Ala
ENST00000310778.5:c.1469A>C	ENSP00000309392.5:p.Glu490Ala
ENST00000341193.9:c.1262A>C	ENSP00000343170.5:p.Glu421Ala
ENST00000347901.8:c.1313A>C	ENSP00000334002.4:p.Glu438Ala
ENST00000393939.6:c.1238A>C	ENSP00000377513.2:p.Glu413Ala
NM_001079870.1:c.1262A>C	NP_001073339.1:p.Glu421Ala
NM_001079871.1:c.1238A>C	NP_001073340.1:p.Glu413Ala
NM_177977.2:c.1313A>C	NP_817084.2:p.Glu438Ala
NM_001367459.1:c.1409A>C	NP_001354388.1:p.Glu470Ala
NM_001367460.1:c.1373A>C	NP_001354389.1:p.Glu458Ala
NM_001367461.1:c.1238A>C	NP_001354390.1:p.Glu413Ala
NM_001367462.1:c.1238A>C	NP_001354391.1:p.Glu413Ala
NM_177977.3:c.1313A>C MANE Select	NP_817084.2:p.Glu438Ala