Canonical Allele Identifier: CA1770254227
Gene: HR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22116253G= , CM000670.2:g.22116253G= GRCh38
NC_000008.10:g.21973766G= , CM000670.1:g.21973766G= GRCh37
NC_000008.9:g.22029711G= NCBI36
NG_008166.1:g.19265C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000381418.9:c.3507+47C= MANE Select ENSP00000370826.4:n.3507+47C=
ENST00000680789.1:c.3507+47C= ENSP00000505181.1:n.3507+47C=
ENST00000312841.9:c.3342+47C= ENSP00000326765.8:n.3342+47C=
ENST00000381418.8:c.3507+47C= ENSP00000370826.4:n.3507+47C=
ENST00000522016.1:n.1700+47C=
NM_005144.4:c.3507+47C= NP_005135.2:n.3507+47C=
NM_018411.4:c.3342+47C= NP_060881.2:n.3342+47C=
XM_005273569.1:c.3510+47C= XP_005273626.1:n.3510+47C=
XM_006716367.1:c.3345+47C= XP_006716430.1:n.3345+47C=
XM_005273569.2:c.3510+47C= XP_005273626.1:n.3510+47C=
XM_006716367.2:c.3345+47C= XP_006716430.1:n.3345+47C=
NM_005144.5:c.3507+47C= MANE Select NP_005135.2:n.3507+47C=