Canonical Allele Identifier: CA4661812

Gene: HR

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116944G>A , CM000670.2:g.22116944G>A	GRCh38
NC_000008.10:g.21974457G>A , CM000670.1:g.21974457G>A	GRCh37
NC_000008.9:g.22030402G>A	NCBI36
NG_008166.1:g.18574C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005144.5:c.3309C>T MANE Select	NP_005135.2:p.Gly1103=
ENST00000381418.9:c.3309C>T MANE Select	ENSP00000370826.4:p.Gly1103=
NM_005144.4:c.3309C>T	NP_005135.2:p.Gly1103=
NM_018411.4:c.3214-516C>T	NP_060881.2:n.3214-516C>T
ENST00000312841.9:c.3214-516C>T	ENSP00000326765.8:n.3214-516C>T
ENST00000381418.8:c.3309C>T	ENSP00000370826.4:p.Gly1103=
ENST00000522016.1:n.1502C>T
ENST00000680789.1:c.3309C>T	ENSP00000505181.1:p.Gly1103=
XM_005273569.1:c.3312C>T	XP_005273626.1:p.Gly1104=
XM_005273569.2:c.3312C>T	XP_005273626.1:p.Gly1104=
XM_006716367.1:c.3217-516C>T	XP_006716430.1:n.3217-516C>T
XM_006716367.2:c.3217-516C>T	XP_006716430.1:n.3217-516C>T