Canonical Allele Identifier: CA459891719

Gene: HR

Linked Data

• gnomAD v4: 8-22123671-A-T
• MyVariant Identifiers: chr8:g.21981184A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22123671A>T , CM000670.2:g.22123671A>T	GRCh38
NC_000008.10:g.21981184A>T , CM000670.1:g.21981184A>T	GRCh37
NC_000008.9:g.22037129A>T	NCBI36
NG_008166.1:g.11847T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.1893T>A MANE Select	ENSP00000370826.4:p.Thr631=
ENST00000680789.1:c.1893T>A	ENSP00000505181.1:p.Thr631=
ENST00000312841.9:c.1893T>A	ENSP00000326765.8:p.Thr631=
ENST00000381418.8:c.1893T>A	ENSP00000370826.4:p.Thr631=
NM_005144.4:c.1893T>A	NP_005135.2:p.Thr631=
NM_018411.4:c.1893T>A	NP_060881.2:p.Thr631=
XM_005273569.1:c.1896T>A	XP_005273626.1:p.Thr632=
XM_006716367.1:c.1896T>A	XP_006716430.1:p.Thr632=
XM_005273569.2:c.1896T>A	XP_005273626.1:p.Thr632=
XM_006716367.2:c.1896T>A	XP_006716430.1:p.Thr632=
NM_005144.5:c.1893T>A MANE Select	NP_005135.2:p.Thr631=