Canonical Allele Identifier: CA459904826

Gene: HR

Linked Data

• MyVariant Identifiers: chr8:g.21973932G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116419G>A , CM000670.2:g.22116419G>A	GRCh38
NC_000008.10:g.21973932G>A , CM000670.1:g.21973932G>A	GRCh37
NC_000008.9:g.22029877G>A	NCBI36
NG_008166.1:g.19099C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3388C>T MANE Select	ENSP00000370826.4:p.Leu1130=
ENST00000680789.1:c.3388C>T	ENSP00000505181.1:p.Leu1130=
ENST00000312841.9:c.3223C>T	ENSP00000326765.8:p.Leu1075=
ENST00000381418.8:c.3388C>T	ENSP00000370826.4:p.Leu1130=
ENST00000522016.1:n.1581C>T
NM_005144.4:c.3388C>T	NP_005135.2:p.Leu1130=
NM_018411.4:c.3223C>T	NP_060881.2:p.Leu1075=
XM_005273569.1:c.3391C>T	XP_005273626.1:p.Leu1131=
XM_006716367.1:c.3226C>T	XP_006716430.1:p.Leu1076=
XM_005273569.2:c.3391C>T	XP_005273626.1:p.Leu1131=
XM_006716367.2:c.3226C>T	XP_006716430.1:p.Leu1076=
NM_005144.5:c.3388C>T MANE Select	NP_005135.2:p.Leu1130=