Canonical Allele Identifier: CA1770254314
Gene: HR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22116304G= , CM000670.2:g.22116304G= GRCh38
NC_000008.10:g.21973817G= , CM000670.1:g.21973817G= GRCh37
NC_000008.9:g.22029762G= NCBI36
NG_008166.1:g.19214C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000381418.9:c.3503C= MANE Select ENSP00000370826.4:p.Ala1168=
ENST00000680789.1:c.3503C= ENSP00000505181.1:p.Ala1168=
ENST00000312841.9:c.3338C= ENSP00000326765.8:p.Ala1113=
ENST00000381418.8:c.3503C= ENSP00000370826.4:p.Ala1168=
ENST00000522016.1:n.1696C=
NM_005144.4:c.3503C= NP_005135.2:p.Ala1168=
NM_018411.4:c.3338C= NP_060881.2:p.Ala1113=
XM_005273569.1:c.3506C= XP_005273626.1:p.Ala1169=
XM_006716367.1:c.3341C= XP_006716430.1:p.Ala1114=
XM_005273569.2:c.3506C= XP_005273626.1:p.Ala1169=
XM_006716367.2:c.3341C= XP_006716430.1:p.Ala1114=
NM_005144.5:c.3503C= MANE Select NP_005135.2:p.Ala1168=