Canonical Allele Identifier: CA370514123

Gene: HR

Linked Data

• MyVariant Identifiers: chr8:g.21973919A>C (hg19) ; chr8:g.22116406A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116406A>C , CM000670.2:g.22116406A>C	GRCh38
NC_000008.10:g.21973919A>C , CM000670.1:g.21973919A>C	GRCh37
NC_000008.9:g.22029864A>C	NCBI36
NG_008166.1:g.19112T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381418.9:c.3401T>G MANE Select	ENSP00000370826.4:p.Val1134Gly
ENST00000680789.1:c.3401T>G	ENSP00000505181.1:p.Val1134Gly
ENST00000312841.9:c.3236T>G	ENSP00000326765.8:p.Val1079Gly
ENST00000381418.8:c.3401T>G	ENSP00000370826.4:p.Val1134Gly
ENST00000522016.1:n.1594T>G
NM_005144.4:c.3401T>G	NP_005135.2:p.Val1134Gly
NM_018411.4:c.3236T>G	NP_060881.2:p.Val1079Gly
XM_005273569.1:c.3404T>G	XP_005273626.1:p.Val1135Gly
XM_006716367.1:c.3239T>G	XP_006716430.1:p.Val1080Gly
XM_005273569.2:c.3404T>G	XP_005273626.1:p.Val1135Gly
XM_006716367.2:c.3239T>G	XP_006716430.1:p.Val1080Gly
NM_005144.5:c.3401T>G MANE Select	NP_005135.2:p.Val1134Gly