Canonical Allele Identifier: CA1770254606
Gene: HR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22116423C= , CM000670.2:g.22116423C= GRCh38
NC_000008.10:g.21973936C= , CM000670.1:g.21973936C= GRCh37
NC_000008.9:g.22029881C= NCBI36
NG_008166.1:g.19095G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000381418.9:c.3384G= MANE Select ENSP00000370826.4:p.Gln1128=
ENST00000680789.1:c.3384G= ENSP00000505181.1:p.Gln1128=
ENST00000312841.9:c.3219G= ENSP00000326765.8:p.Gln1073=
ENST00000381418.8:c.3384G= ENSP00000370826.4:p.Gln1128=
ENST00000522016.1:n.1577G=
NM_005144.4:c.3384G= NP_005135.2:p.Gln1128=
NM_018411.4:c.3219G= NP_060881.2:p.Gln1073=
XM_005273569.1:c.3387G= XP_005273626.1:p.Gln1129=
XM_006716367.1:c.3222G= XP_006716430.1:p.Gln1074=
XM_005273569.2:c.3387G= XP_005273626.1:p.Gln1129=
XM_006716367.2:c.3222G= XP_006716430.1:p.Gln1074=
NM_005144.5:c.3384G= MANE Select NP_005135.2:p.Gln1128=