Canonical Allele Identifier: CA370492635

Gene: HR

Linked Data

• dbSNP Id: rs930348749
• gnomAD v2: 8-21981262-A-T
• MyVariant Identifiers: chr8:g.21981262A>T (hg19) ; chr8:g.22123749A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22123749A>T , CM000670.2:g.22123749A>T	GRCh38
NC_000008.10:g.21981262A>T , CM000670.1:g.21981262A>T	GRCh37
NC_000008.9:g.22037207A>T	NCBI36
NG_008166.1:g.11769T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.1815T>A MANE Select	ENSP00000370826.4:p.His605Gln
ENST00000680789.1:c.1815T>A	ENSP00000505181.1:p.His605Gln
ENST00000312841.9:c.1815T>A	ENSP00000326765.8:p.His605Gln
ENST00000381418.8:c.1815T>A	ENSP00000370826.4:p.His605Gln
NM_005144.4:c.1815T>A	NP_005135.2:p.His605Gln
NM_018411.4:c.1815T>A	NP_060881.2:p.His605Gln
XM_005273569.1:c.1818T>A	XP_005273626.1:p.His606Gln
XM_006716367.1:c.1818T>A	XP_006716430.1:p.His606Gln
XM_005273569.2:c.1818T>A	XP_005273626.1:p.His606Gln
XM_006716367.2:c.1818T>A	XP_006716430.1:p.His606Gln
NM_005144.5:c.1815T>A MANE Select	NP_005135.2:p.His605Gln