Canonical Allele Identifier: CA370513873

Gene: HR

Linked Data

• dbSNP Id: rs1826586034
• gnomAD v4: 8-22116346-T-A
• MyVariant Identifiers: chr8:g.21973859T>A (hg19) ; chr8:g.22116346T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116346T>A , CM000670.2:g.22116346T>A	GRCh38
NC_000008.10:g.21973859T>A , CM000670.1:g.21973859T>A	GRCh37
NC_000008.9:g.22029804T>A	NCBI36
NG_008166.1:g.19172A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3461A>T MANE Select	ENSP00000370826.4:p.His1154Leu
ENST00000680789.1:c.3461A>T	ENSP00000505181.1:p.His1154Leu
ENST00000312841.9:c.3296A>T	ENSP00000326765.8:p.His1099Leu
ENST00000381418.8:c.3461A>T	ENSP00000370826.4:p.His1154Leu
ENST00000522016.1:n.1654A>T
NM_005144.4:c.3461A>T	NP_005135.2:p.His1154Leu
NM_018411.4:c.3296A>T	NP_060881.2:p.His1099Leu
XM_005273569.1:c.3464A>T	XP_005273626.1:p.His1155Leu
XM_006716367.1:c.3299A>T	XP_006716430.1:p.His1100Leu
XM_005273569.2:c.3464A>T	XP_005273626.1:p.His1155Leu
XM_006716367.2:c.3299A>T	XP_006716430.1:p.His1100Leu
NM_005144.5:c.3461A>T MANE Select	NP_005135.2:p.His1154Leu