Canonical Allele Identifier: CA370514177
Gene: HR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22116416C>A , CM000670.2:g.22116416C>A GRCh38
NC_000008.10:g.21973929C>A , CM000670.1:g.21973929C>A GRCh37
NC_000008.9:g.22029874C>A NCBI36
NG_008166.1:g.19102G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381418.9:c.3391G>T MANE Select ENSP00000370826.4:p.Val1131Leu
ENST00000680789.1:c.3391G>T ENSP00000505181.1:p.Val1131Leu
ENST00000312841.9:c.3226G>T ENSP00000326765.8:p.Val1076Leu
ENST00000381418.8:c.3391G>T ENSP00000370826.4:p.Val1131Leu
ENST00000522016.1:n.1584G>T
NM_005144.4:c.3391G>T NP_005135.2:p.Val1131Leu
NM_018411.4:c.3226G>T NP_060881.2:p.Val1076Leu
XM_005273569.1:c.3394G>T XP_005273626.1:p.Val1132Leu
XM_006716367.1:c.3229G>T XP_006716430.1:p.Val1077Leu
XM_005273569.2:c.3394G>T XP_005273626.1:p.Val1132Leu
XM_006716367.2:c.3229G>T XP_006716430.1:p.Val1077Leu
NM_005144.5:c.3391G>T MANE Select NP_005135.2:p.Val1131Leu