Canonical Allele Identifier: CA370514172

Gene: HR

Linked Data

• MyVariant Identifiers: chr8:g.21973928A>T (hg19) ; chr8:g.22116415A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116415A>T , CM000670.2:g.22116415A>T	GRCh38
NC_000008.10:g.21973928A>T , CM000670.1:g.21973928A>T	GRCh37
NC_000008.9:g.22029873A>T	NCBI36
NG_008166.1:g.19103T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3392T>A MANE Select	ENSP00000370826.4:p.Val1131Glu
ENST00000680789.1:c.3392T>A	ENSP00000505181.1:p.Val1131Glu
ENST00000312841.9:c.3227T>A	ENSP00000326765.8:p.Val1076Glu
ENST00000381418.8:c.3392T>A	ENSP00000370826.4:p.Val1131Glu
ENST00000522016.1:n.1585T>A
NM_005144.4:c.3392T>A	NP_005135.2:p.Val1131Glu
NM_018411.4:c.3227T>A	NP_060881.2:p.Val1076Glu
XM_005273569.1:c.3395T>A	XP_005273626.1:p.Val1132Glu
XM_006716367.1:c.3230T>A	XP_006716430.1:p.Val1077Glu
XM_005273569.2:c.3395T>A	XP_005273626.1:p.Val1132Glu
XM_006716367.2:c.3230T>A	XP_006716430.1:p.Val1077Glu
NM_005144.5:c.3392T>A MANE Select	NP_005135.2:p.Val1131Glu