Canonical Allele Identifier: CA459904716

Gene: HR

Linked Data

• MyVariant Identifiers: chr8:g.21973843A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116330A>G , CM000670.2:g.22116330A>G	GRCh38
NC_000008.10:g.21973843A>G , CM000670.1:g.21973843A>G	GRCh37
NC_000008.9:g.22029788A>G	NCBI36
NG_008166.1:g.19188T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3477T>C MANE Select	ENSP00000370826.4:p.Leu1159=
ENST00000680789.1:c.3477T>C	ENSP00000505181.1:p.Leu1159=
ENST00000312841.9:c.3312T>C	ENSP00000326765.8:p.Leu1104=
ENST00000381418.8:c.3477T>C	ENSP00000370826.4:p.Leu1159=
ENST00000522016.1:n.1670T>C
NM_005144.4:c.3477T>C	NP_005135.2:p.Leu1159=
NM_018411.4:c.3312T>C	NP_060881.2:p.Leu1104=
XM_005273569.1:c.3480T>C	XP_005273626.1:p.Leu1160=
XM_006716367.1:c.3315T>C	XP_006716430.1:p.Leu1105=
XM_005273569.2:c.3480T>C	XP_005273626.1:p.Leu1160=
XM_006716367.2:c.3315T>C	XP_006716430.1:p.Leu1105=
NM_005144.5:c.3477T>C MANE Select	NP_005135.2:p.Leu1159=