Canonical Allele Identifier: CA370514008
Gene: HR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22116383A>T , CM000670.2:g.22116383A>T GRCh38
NC_000008.10:g.21973896A>T , CM000670.1:g.21973896A>T GRCh37
NC_000008.9:g.22029841A>T NCBI36
NG_008166.1:g.19135T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381418.9:c.3424T>A MANE Select ENSP00000370826.4:p.Ser1142Thr
ENST00000680789.1:c.3424T>A ENSP00000505181.1:p.Ser1142Thr
ENST00000312841.9:c.3259T>A ENSP00000326765.8:p.Ser1087Thr
ENST00000381418.8:c.3424T>A ENSP00000370826.4:p.Ser1142Thr
ENST00000522016.1:n.1617T>A
NM_005144.4:c.3424T>A NP_005135.2:p.Ser1142Thr
NM_018411.4:c.3259T>A NP_060881.2:p.Ser1087Thr
XM_005273569.1:c.3427T>A XP_005273626.1:p.Ser1143Thr
XM_006716367.1:c.3262T>A XP_006716430.1:p.Ser1088Thr
XM_005273569.2:c.3427T>A XP_005273626.1:p.Ser1143Thr
XM_006716367.2:c.3262T>A XP_006716430.1:p.Ser1088Thr
NM_005144.5:c.3424T>A MANE Select NP_005135.2:p.Ser1142Thr