Canonical Allele Identifier: CA370492617

Gene: HR

Linked Data

• gnomAD v4: 8-22123747-C-G
• MyVariant Identifiers: chr8:g.21981260C>G (hg19) ; chr8:g.22123747C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22123747C>G , CM000670.2:g.22123747C>G	GRCh38
NC_000008.10:g.21981260C>G , CM000670.1:g.21981260C>G	GRCh37
NC_000008.9:g.22037205C>G	NCBI36
NG_008166.1:g.11771G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.1817G>C MANE Select	ENSP00000370826.4:p.Gly606Ala
ENST00000680789.1:c.1817G>C	ENSP00000505181.1:p.Gly606Ala
ENST00000312841.9:c.1817G>C	ENSP00000326765.8:p.Gly606Ala
ENST00000381418.8:c.1817G>C	ENSP00000370826.4:p.Gly606Ala
NM_005144.4:c.1817G>C	NP_005135.2:p.Gly606Ala
NM_018411.4:c.1817G>C	NP_060881.2:p.Gly606Ala
XM_005273569.1:c.1820G>C	XP_005273626.1:p.Gly607Ala
XM_006716367.1:c.1820G>C	XP_006716430.1:p.Gly607Ala
XM_005273569.2:c.1820G>C	XP_005273626.1:p.Gly607Ala
XM_006716367.2:c.1820G>C	XP_006716430.1:p.Gly607Ala
NM_005144.5:c.1817G>C MANE Select	NP_005135.2:p.Gly606Ala