Canonical Allele Identifier: CA370492629

Gene: HR

Linked Data

• dbSNP Id: rs1448150123
• gnomAD v4: 8-22123748-C-T
• MyVariant Identifiers: chr8:g.21981261C>T (hg19) ; chr8:g.22123748C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22123748C>T , CM000670.2:g.22123748C>T	GRCh38
NC_000008.10:g.21981261C>T , CM000670.1:g.21981261C>T	GRCh37
NC_000008.9:g.22037206C>T	NCBI36
NG_008166.1:g.11770G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.1816G>A MANE Select	ENSP00000370826.4:p.Gly606Arg
ENST00000680789.1:c.1816G>A	ENSP00000505181.1:p.Gly606Arg
ENST00000312841.9:c.1816G>A	ENSP00000326765.8:p.Gly606Arg
ENST00000381418.8:c.1816G>A	ENSP00000370826.4:p.Gly606Arg
NM_005144.4:c.1816G>A	NP_005135.2:p.Gly606Arg
NM_018411.4:c.1816G>A	NP_060881.2:p.Gly606Arg
XM_005273569.1:c.1819G>A	XP_005273626.1:p.Gly607Arg
XM_006716367.1:c.1819G>A	XP_006716430.1:p.Gly607Arg
XM_005273569.2:c.1819G>A	XP_005273626.1:p.Gly607Arg
XM_006716367.2:c.1819G>A	XP_006716430.1:p.Gly607Arg
NM_005144.5:c.1816G>A MANE Select	NP_005135.2:p.Gly606Arg