Canonical Allele Identifier: CA370518806

Gene: HR

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22120785C>T , CM000670.2:g.22120785C>T	GRCh38
NC_000008.10:g.21978298C>T , CM000670.1:g.21978298C>T	GRCh37
NC_000008.9:g.22034243C>T	NCBI36
NG_008166.1:g.14733G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005144.5:c.2541G>A MANE Select	NP_005135.2:p.Trp847Ter
ENST00000381418.9:c.2541G>A MANE Select	ENSP00000370826.4:p.Trp847Ter
NM_005144.4:c.2541G>A	NP_005135.2:p.Trp847Ter
NM_018411.4:c.2541G>A	NP_060881.2:p.Trp847Ter
ENST00000312841.9:c.2541G>A	ENSP00000326765.8:p.Trp847Ter
ENST00000381418.8:c.2541G>A	ENSP00000370826.4:p.Trp847Ter
ENST00000517699.2:c.482G>A
ENST00000680789.1:c.2541G>A	ENSP00000505181.1:p.Trp847Ter
XM_005273569.1:c.2544G>A	XP_005273626.1:p.Trp848Ter
XM_005273569.2:c.2544G>A	XP_005273626.1:p.Trp848Ter
XM_006716367.1:c.2544G>A	XP_006716430.1:p.Trp848Ter
XM_006716367.2:c.2544G>A	XP_006716430.1:p.Trp848Ter