Canonical Allele Identifier: CA399479127

Gene: HAP1

Linked Data

• MyVariant Identifiers: chr17:g.39883394C>G (hg19) ; chr17:g.41727142C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41727142C>G , CM000679.2:g.41727142C>G	GRCh38
NC_000017.10:g.39883394C>G , CM000679.1:g.39883394C>G	GRCh37
NC_000017.9:g.37136920C>G	NCBI36
NG_009090.2:g.64571G>C , LRG_401:g.64571G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347901.9:c.1278G>C MANE Select	ENSP00000334002.4:p.Glu426Asp
ENST00000310778.5:c.1434G>C	ENSP00000309392.5:p.Glu478Asp
ENST00000341193.9:c.1227G>C	ENSP00000343170.5:p.Glu409Asp
ENST00000347901.8:c.1278G>C	ENSP00000334002.4:p.Glu426Asp
ENST00000393939.6:c.1203G>C	ENSP00000377513.2:p.Glu401Asp
NM_001079870.1:c.1227G>C	NP_001073339.1:p.Glu409Asp
NM_001079871.1:c.1203G>C	NP_001073340.1:p.Glu401Asp
NM_177977.2:c.1278G>C	NP_817084.2:p.Glu426Asp
NM_001367459.1:c.1374G>C	NP_001354388.1:p.Glu458Asp
NM_001367460.1:c.1338G>C	NP_001354389.1:p.Glu446Asp
NM_001367461.1:c.1203G>C	NP_001354390.1:p.Glu401Asp
NM_001367462.1:c.1203G>C	NP_001354391.1:p.Glu401Asp
NM_177977.3:c.1278G>C MANE Select	NP_817084.2:p.Glu426Asp