Canonical Allele Identifier: CA370513781

Gene: HR

Linked Data

• MyVariant Identifiers: chr8:g.21973836C>A (hg19) ; chr8:g.22116323C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116323C>A , CM000670.2:g.22116323C>A	GRCh38
NC_000008.10:g.21973836C>A , CM000670.1:g.21973836C>A	GRCh37
NC_000008.9:g.22029781C>A	NCBI36
NG_008166.1:g.19195G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3484G>T MANE Select	ENSP00000370826.4:p.Asp1162Tyr
ENST00000680789.1:c.3484G>T	ENSP00000505181.1:p.Asp1162Tyr
ENST00000312841.9:c.3319G>T	ENSP00000326765.8:p.Asp1107Tyr
ENST00000381418.8:c.3484G>T	ENSP00000370826.4:p.Asp1162Tyr
ENST00000522016.1:n.1677G>T
NM_005144.4:c.3484G>T	NP_005135.2:p.Asp1162Tyr
NM_018411.4:c.3319G>T	NP_060881.2:p.Asp1107Tyr
XM_005273569.1:c.3487G>T	XP_005273626.1:p.Asp1163Tyr
XM_006716367.1:c.3322G>T	XP_006716430.1:p.Asp1108Tyr
XM_005273569.2:c.3487G>T	XP_005273626.1:p.Asp1163Tyr
XM_006716367.2:c.3322G>T	XP_006716430.1:p.Asp1108Tyr
NM_005144.5:c.3484G>T MANE Select	NP_005135.2:p.Asp1162Tyr