Canonical Allele Identifier: CA370513699

Gene: HR

Linked Data

• dbSNP Id: rs1218278391
• gnomAD v2: 8-21973818-C-T
• MyVariant Identifiers: chr8:g.21973818C>T (hg19) ; chr8:g.22116305C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116305C>T , CM000670.2:g.22116305C>T	GRCh38
NC_000008.10:g.21973818C>T , CM000670.1:g.21973818C>T	GRCh37
NC_000008.9:g.22029763C>T	NCBI36
NG_008166.1:g.19213G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3502G>A MANE Select	ENSP00000370826.4:p.Ala1168Thr
ENST00000680789.1:c.3502G>A	ENSP00000505181.1:p.Ala1168Thr
ENST00000312841.9:c.3337G>A	ENSP00000326765.8:p.Ala1113Thr
ENST00000381418.8:c.3502G>A	ENSP00000370826.4:p.Ala1168Thr
ENST00000522016.1:n.1695G>A
NM_005144.4:c.3502G>A	NP_005135.2:p.Ala1168Thr
NM_018411.4:c.3337G>A	NP_060881.2:p.Ala1113Thr
XM_005273569.1:c.3505G>A	XP_005273626.1:p.Ala1169Thr
XM_006716367.1:c.3340G>A	XP_006716430.1:p.Ala1114Thr
XM_005273569.2:c.3505G>A	XP_005273626.1:p.Ala1169Thr
XM_006716367.2:c.3340G>A	XP_006716430.1:p.Ala1114Thr
NM_005144.5:c.3502G>A MANE Select	NP_005135.2:p.Ala1168Thr