Canonical Allele Identifier: CA370513765

Gene: HR

Linked Data

• dbSNP Id: rs1826585366
• MyVariant Identifiers: chr8:g.21973833A>C (hg19) ; chr8:g.22116320A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116320A>C , CM000670.2:g.22116320A>C	GRCh38
NC_000008.10:g.21973833A>C , CM000670.1:g.21973833A>C	GRCh37
NC_000008.9:g.22029778A>C	NCBI36
NG_008166.1:g.19198T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3487T>G MANE Select	ENSP00000370826.4:p.Cys1163Gly
ENST00000680789.1:c.3487T>G	ENSP00000505181.1:p.Cys1163Gly
ENST00000312841.9:c.3322T>G	ENSP00000326765.8:p.Cys1108Gly
ENST00000381418.8:c.3487T>G	ENSP00000370826.4:p.Cys1163Gly
ENST00000522016.1:n.1680T>G
NM_005144.4:c.3487T>G	NP_005135.2:p.Cys1163Gly
NM_018411.4:c.3322T>G	NP_060881.2:p.Cys1108Gly
XM_005273569.1:c.3490T>G	XP_005273626.1:p.Cys1164Gly
XM_006716367.1:c.3325T>G	XP_006716430.1:p.Cys1109Gly
XM_005273569.2:c.3490T>G	XP_005273626.1:p.Cys1164Gly
XM_006716367.2:c.3325T>G	XP_006716430.1:p.Cys1109Gly
NM_005144.5:c.3487T>G MANE Select	NP_005135.2:p.Cys1163Gly