Canonical Allele Identifier: CA370514133

Gene: HR

Linked Data

• dbSNP Id: rs1563615284
• gnomAD v2: 8-21973920-C-T
• gnomAD v4: 8-22116407-C-T
• MyVariant Identifiers: chr8:g.21973920C>T (hg19) ; chr8:g.21973920_21973922delinsTTG (hg19) ; chr8:g.22116407C>T (hg38) ; chr8:g.22116407_22116409delinsTTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116407C>T , CM000670.2:g.22116407C>T	GRCh38
NC_000008.10:g.21973920C>T , CM000670.1:g.21973920C>T	GRCh37
NC_000008.9:g.22029865C>T	NCBI36
NG_008166.1:g.19111G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3400G>A MANE Select	ENSP00000370826.4:p.Val1134Ile
ENST00000680789.1:c.3400G>A	ENSP00000505181.1:p.Val1134Ile
ENST00000312841.9:c.3235G>A	ENSP00000326765.8:p.Val1079Ile
ENST00000381418.8:c.3400G>A	ENSP00000370826.4:p.Val1134Ile
ENST00000522016.1:n.1593G>A
NM_005144.4:c.3400G>A	NP_005135.2:p.Val1134Ile
NM_018411.4:c.3235G>A	NP_060881.2:p.Val1079Ile
XM_005273569.1:c.3403G>A	XP_005273626.1:p.Val1135Ile
XM_006716367.1:c.3238G>A	XP_006716430.1:p.Val1080Ile
XM_005273569.2:c.3403G>A	XP_005273626.1:p.Val1135Ile
XM_006716367.2:c.3238G>A	XP_006716430.1:p.Val1080Ile
NM_005144.5:c.3400G>A MANE Select	NP_005135.2:p.Val1134Ile