Canonical Allele Identifier: CA459904811

Gene: HR

Linked Data

• gnomAD v4: 8-22116405-G-T
• MyVariant Identifiers: chr8:g.21973918G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116405G>T , CM000670.2:g.22116405G>T	GRCh38
NC_000008.10:g.21973918G>T , CM000670.1:g.21973918G>T	GRCh37
NC_000008.9:g.22029863G>T	NCBI36
NG_008166.1:g.19113C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3402C>A MANE Select	ENSP00000370826.4:p.Val1134=
ENST00000680789.1:c.3402C>A	ENSP00000505181.1:p.Val1134=
ENST00000312841.9:c.3237C>A	ENSP00000326765.8:p.Val1079=
ENST00000381418.8:c.3402C>A	ENSP00000370826.4:p.Val1134=
ENST00000522016.1:n.1595C>A
NM_005144.4:c.3402C>A	NP_005135.2:p.Val1134=
NM_018411.4:c.3237C>A	NP_060881.2:p.Val1079=
XM_005273569.1:c.3405C>A	XP_005273626.1:p.Val1135=
XM_006716367.1:c.3240C>A	XP_006716430.1:p.Val1080=
XM_005273569.2:c.3405C>A	XP_005273626.1:p.Val1135=
XM_006716367.2:c.3240C>A	XP_006716430.1:p.Val1080=
NM_005144.5:c.3402C>A MANE Select	NP_005135.2:p.Val1134=