Canonical Allele Identifier: CA370492638

Gene: HR

Linked Data

• MyVariant Identifiers: chr8:g.21981263T>A (hg19) ; chr8:g.22123750T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22123750T>A , CM000670.2:g.22123750T>A	GRCh38
NC_000008.10:g.21981263T>A , CM000670.1:g.21981263T>A	GRCh37
NC_000008.9:g.22037208T>A	NCBI36
NG_008166.1:g.11768A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381418.9:c.1814A>T MANE Select	ENSP00000370826.4:p.His605Leu
ENST00000680789.1:c.1814A>T	ENSP00000505181.1:p.His605Leu
ENST00000312841.9:c.1814A>T	ENSP00000326765.8:p.His605Leu
ENST00000381418.8:c.1814A>T	ENSP00000370826.4:p.His605Leu
NM_005144.4:c.1814A>T	NP_005135.2:p.His605Leu
NM_018411.4:c.1814A>T	NP_060881.2:p.His605Leu
XM_005273569.1:c.1817A>T	XP_005273626.1:p.His606Leu
XM_006716367.1:c.1817A>T	XP_006716430.1:p.His606Leu
XM_005273569.2:c.1817A>T	XP_005273626.1:p.His606Leu
XM_006716367.2:c.1817A>T	XP_006716430.1:p.His606Leu
NM_005144.5:c.1814A>T MANE Select	NP_005135.2:p.His605Leu