Canonical Allele Identifier: CA370513676

Gene: HR

Linked Data

• MyVariant Identifiers: chr8:g.21973813C>G (hg19) ; chr8:g.22116300C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116300C>G , CM000670.2:g.22116300C>G	GRCh38
NC_000008.10:g.21973813C>G , CM000670.1:g.21973813C>G	GRCh37
NC_000008.9:g.22029758C>G	NCBI36
NG_008166.1:g.19218G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3507G>C MANE Select	ENSP00000370826.4:p.Gln1169His
ENST00000680789.1:c.3507G>C	ENSP00000505181.1:p.Gln1169His
ENST00000312841.9:c.3342G>C	ENSP00000326765.8:p.Gln1114His
ENST00000381418.8:c.3507G>C	ENSP00000370826.4:p.Gln1169His
ENST00000522016.1:n.1700G>C
NM_005144.4:c.3507G>C	NP_005135.2:p.Gln1169His
NM_018411.4:c.3342G>C	NP_060881.2:p.Gln1114His
XM_005273569.1:c.3510G>C	XP_005273626.1:p.Gln1170His
XM_006716367.1:c.3345G>C	XP_006716430.1:p.Gln1115His
XM_005273569.2:c.3510G>C	XP_005273626.1:p.Gln1170His
XM_006716367.2:c.3345G>C	XP_006716430.1:p.Gln1115His
NM_005144.5:c.3507G>C MANE Select	NP_005135.2:p.Gln1169His