Canonical Allele Identifier: CA370492323
Gene: HR HGNC NCBI

Linked Data

gnomAD v4: 8-22123669-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22123669C>A , CM000670.2:g.22123669C>A GRCh38
NC_000008.10:g.21981182C>A , CM000670.1:g.21981182C>A GRCh37
NC_000008.9:g.22037127C>A NCBI36
NG_008166.1:g.11849G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381418.9:c.1895G>T MANE Select ENSP00000370826.4:p.Gly632Val
ENST00000680789.1:c.1895G>T ENSP00000505181.1:p.Gly632Val
ENST00000312841.9:c.1895G>T ENSP00000326765.8:p.Gly632Val
ENST00000381418.8:c.1895G>T ENSP00000370826.4:p.Gly632Val
NM_005144.4:c.1895G>T NP_005135.2:p.Gly632Val
NM_018411.4:c.1895G>T NP_060881.2:p.Gly632Val
XM_005273569.1:c.1898G>T XP_005273626.1:p.Gly633Val
XM_006716367.1:c.1898G>T XP_006716430.1:p.Gly633Val
XM_005273569.2:c.1898G>T XP_005273626.1:p.Gly633Val
XM_006716367.2:c.1898G>T XP_006716430.1:p.Gly633Val
NM_005144.5:c.1895G>T MANE Select NP_005135.2:p.Gly632Val