Canonical Allele Identifier: CA173489706

Gene: HR

Linked Data

• dbSNP Id: rs373213254
• gnomAD v4: 8-22116306-A-G
• MyVariant Identifiers: chr8:g.21973819A>G (hg19) ; chr8:g.22116306A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116306A>G , CM000670.2:g.22116306A>G	GRCh38
NC_000008.10:g.21973819A>G , CM000670.1:g.21973819A>G	GRCh37
NC_000008.9:g.22029764A>G	NCBI36
NG_008166.1:g.19212T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3501T>C MANE Select	ENSP00000370826.4:p.Tyr1167=
ENST00000680789.1:c.3501T>C	ENSP00000505181.1:p.Tyr1167=
ENST00000312841.9:c.3336T>C	ENSP00000326765.8:p.Tyr1112=
ENST00000381418.8:c.3501T>C	ENSP00000370826.4:p.Tyr1167=
ENST00000522016.1:n.1694T>C
NM_005144.4:c.3501T>C	NP_005135.2:p.Tyr1167=
NM_018411.4:c.3336T>C	NP_060881.2:p.Tyr1112=
XM_005273569.1:c.3504T>C	XP_005273626.1:p.Tyr1168=
XM_006716367.1:c.3339T>C	XP_006716430.1:p.Tyr1113=
XM_005273569.2:c.3504T>C	XP_005273626.1:p.Tyr1168=
XM_006716367.2:c.3339T>C	XP_006716430.1:p.Tyr1113=
NM_005144.5:c.3501T>C MANE Select	NP_005135.2:p.Tyr1167=