Canonical Allele Identifier: CA370514208

Gene: HR

Linked Data

• dbSNP Id: rs1826588682
• MyVariant Identifiers: chr8:g.21973937T>G (hg19) ; chr8:g.22116424T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116424T>G , CM000670.2:g.22116424T>G	GRCh38
NC_000008.10:g.21973937T>G , CM000670.1:g.21973937T>G	GRCh37
NC_000008.9:g.22029882T>G	NCBI36
NG_008166.1:g.19094A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3383A>C MANE Select	ENSP00000370826.4:p.Gln1128Pro
ENST00000680789.1:c.3383A>C	ENSP00000505181.1:p.Gln1128Pro
ENST00000312841.9:c.3218A>C	ENSP00000326765.8:p.Gln1073Pro
ENST00000381418.8:c.3383A>C	ENSP00000370826.4:p.Gln1128Pro
ENST00000522016.1:n.1576A>C
NM_005144.4:c.3383A>C	NP_005135.2:p.Gln1128Pro
NM_018411.4:c.3218A>C	NP_060881.2:p.Gln1073Pro
XM_005273569.1:c.3386A>C	XP_005273626.1:p.Gln1129Pro
XM_006716367.1:c.3221A>C	XP_006716430.1:p.Gln1074Pro
XM_005273569.2:c.3386A>C	XP_005273626.1:p.Gln1129Pro
XM_006716367.2:c.3221A>C	XP_006716430.1:p.Gln1074Pro
NM_005144.5:c.3383A>C MANE Select	NP_005135.2:p.Gln1128Pro