Canonical Allele Identifier: CA1770254324
Gene: HR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22116306A= , CM000670.2:g.22116306A= GRCh38
NC_000008.10:g.21973819A= , CM000670.1:g.21973819A= GRCh37
NC_000008.9:g.22029764A= NCBI36
NG_008166.1:g.19212T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000381418.9:c.3501T= MANE Select ENSP00000370826.4:p.Tyr1167=
ENST00000680789.1:c.3501T= ENSP00000505181.1:p.Tyr1167=
ENST00000312841.9:c.3336T= ENSP00000326765.8:p.Tyr1112=
ENST00000381418.8:c.3501T= ENSP00000370826.4:p.Tyr1167=
ENST00000522016.1:n.1694T=
NM_005144.4:c.3501T= NP_005135.2:p.Tyr1167=
NM_018411.4:c.3336T= NP_060881.2:p.Tyr1112=
XM_005273569.1:c.3504T= XP_005273626.1:p.Tyr1168=
XM_006716367.1:c.3339T= XP_006716430.1:p.Tyr1113=
XM_005273569.2:c.3504T= XP_005273626.1:p.Tyr1168=
XM_006716367.2:c.3339T= XP_006716430.1:p.Tyr1113=
NM_005144.5:c.3501T= MANE Select NP_005135.2:p.Tyr1167=