Canonical Allele Identifier: CA4662327
Gene: HR HGNC NCBI

Linked Data

dbSNP Id: rs376410706
gnomAD v2: 8-21981198-G-A
gnomAD v3: 8-22123685-G-A
gnomAD v4: 8-22123685-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22123685G>A , CM000670.2:g.22123685G>A GRCh38
NC_000008.10:g.21981198G>A , CM000670.1:g.21981198G>A GRCh37
NC_000008.9:g.22037143G>A NCBI36
NG_008166.1:g.11833C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381418.9:c.1879C>T MANE Select ENSP00000370826.4:p.Arg627Cys
ENST00000680789.1:c.1879C>T ENSP00000505181.1:p.Arg627Cys
ENST00000312841.9:c.1879C>T ENSP00000326765.8:p.Arg627Cys
ENST00000381418.8:c.1879C>T ENSP00000370826.4:p.Arg627Cys
NM_005144.4:c.1879C>T NP_005135.2:p.Arg627Cys
NM_018411.4:c.1879C>T NP_060881.2:p.Arg627Cys
XM_005273569.1:c.1882C>T XP_005273626.1:p.Arg628Cys
XM_006716367.1:c.1882C>T XP_006716430.1:p.Arg628Cys
XM_005273569.2:c.1882C>T XP_005273626.1:p.Arg628Cys
XM_006716367.2:c.1882C>T XP_006716430.1:p.Arg628Cys
NM_005144.5:c.1879C>T MANE Select NP_005135.2:p.Arg627Cys