Canonical Allele Identifier: CA370513891

Gene: HR

Linked Data

• MyVariant Identifiers: chr8:g.21973863A>T (hg19) ; chr8:g.22116350A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116350A>T , CM000670.2:g.22116350A>T	GRCh38
NC_000008.10:g.21973863A>T , CM000670.1:g.21973863A>T	GRCh37
NC_000008.9:g.22029808A>T	NCBI36
NG_008166.1:g.19168T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3457T>A MANE Select	ENSP00000370826.4:p.Cys1153Ser
ENST00000680789.1:c.3457T>A	ENSP00000505181.1:p.Cys1153Ser
ENST00000312841.9:c.3292T>A	ENSP00000326765.8:p.Cys1098Ser
ENST00000381418.8:c.3457T>A	ENSP00000370826.4:p.Cys1153Ser
ENST00000522016.1:n.1650T>A
NM_005144.4:c.3457T>A	NP_005135.2:p.Cys1153Ser
NM_018411.4:c.3292T>A	NP_060881.2:p.Cys1098Ser
XM_005273569.1:c.3460T>A	XP_005273626.1:p.Cys1154Ser
XM_006716367.1:c.3295T>A	XP_006716430.1:p.Cys1099Ser
XM_005273569.2:c.3460T>A	XP_005273626.1:p.Cys1154Ser
XM_006716367.2:c.3295T>A	XP_006716430.1:p.Cys1099Ser
NM_005144.5:c.3457T>A MANE Select	NP_005135.2:p.Cys1153Ser