Canonical Allele Identifier: CA4662593
Community Standard Title: NM_005144.5(HR):c.974G>A (p.Gly325Asp)
Gene: HR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22127468C>T , CM000670.2:g.22127468C>T GRCh38
NC_000008.10:g.21984981C>T , CM000670.1:g.21984981C>T GRCh37
NC_000008.9:g.22040926C>T NCBI36
NG_008166.1:g.8050G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005144.5:c.974G>A MANE Select NP_005135.2:p.Gly325Asp
ENST00000381418.9:c.974G>A MANE Select ENSP00000370826.4:p.Gly325Asp
NM_005144.4:c.974G>A NP_005135.2:p.Gly325Asp
NM_018411.4:c.974G>A NP_060881.2:p.Gly325Asp
ENST00000312841.9:c.974G>A ENSP00000326765.8:p.Gly325Asp
ENST00000381418.8:c.974G>A ENSP00000370826.4:p.Gly325Asp
ENST00000680789.1:c.974G>A ENSP00000505181.1:p.Gly325Asp
XM_005273569.1:c.974G>A XP_005273626.1:p.Gly325Asp
XM_005273569.2:c.974G>A XP_005273626.1:p.Gly325Asp
XM_006716367.1:c.974G>A XP_006716430.1:p.Gly325Asp
XM_006716367.2:c.974G>A XP_006716430.1:p.Gly325Asp