Canonical Allele Identifier: CA370492568
Gene: HR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22123738T>G , CM000670.2:g.22123738T>G GRCh38
NC_000008.10:g.21981251T>G , CM000670.1:g.21981251T>G GRCh37
NC_000008.9:g.22037196T>G NCBI36
NG_008166.1:g.11780A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000381418.9:c.1826A>C MANE Select ENSP00000370826.4:p.Asn609Thr
ENST00000680789.1:c.1826A>C ENSP00000505181.1:p.Asn609Thr
ENST00000312841.9:c.1826A>C ENSP00000326765.8:p.Asn609Thr
ENST00000381418.8:c.1826A>C ENSP00000370826.4:p.Asn609Thr
NM_005144.4:c.1826A>C NP_005135.2:p.Asn609Thr
NM_018411.4:c.1826A>C NP_060881.2:p.Asn609Thr
XM_005273569.1:c.1829A>C XP_005273626.1:p.Asn610Thr
XM_006716367.1:c.1829A>C XP_006716430.1:p.Asn610Thr
XM_005273569.2:c.1829A>C XP_005273626.1:p.Asn610Thr
XM_006716367.2:c.1829A>C XP_006716430.1:p.Asn610Thr
NM_005144.5:c.1826A>C MANE Select NP_005135.2:p.Asn609Thr