Canonical Allele Identifier: CA1770254304
Gene: HR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22116300C= , CM000670.2:g.22116300C= GRCh38
NC_000008.10:g.21973813C= , CM000670.1:g.21973813C= GRCh37
NC_000008.9:g.22029758C= NCBI36
NG_008166.1:g.19218G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000381418.9:c.3507G= MANE Select ENSP00000370826.4:p.Gln1169=
ENST00000680789.1:c.3507G= ENSP00000505181.1:p.Gln1169=
ENST00000312841.9:c.3342G= ENSP00000326765.8:p.Gln1114=
ENST00000381418.8:c.3507G= ENSP00000370826.4:p.Gln1169=
ENST00000522016.1:n.1700G=
NM_005144.4:c.3507G= NP_005135.2:p.Gln1169=
NM_018411.4:c.3342G= NP_060881.2:p.Gln1114=
XM_005273569.1:c.3510G= XP_005273626.1:p.Gln1170=
XM_006716367.1:c.3345G= XP_006716430.1:p.Gln1115=
XM_005273569.2:c.3510G= XP_005273626.1:p.Gln1170=
XM_006716367.2:c.3345G= XP_006716430.1:p.Gln1115=
NM_005144.5:c.3507G= MANE Select NP_005135.2:p.Gln1169=