Canonical Allele Identifier: CA370492573

Gene: HR

Linked Data

• gnomAD v4: 8-22123739-T-C
• MyVariant Identifiers: chr8:g.21981252T>C (hg19) ; chr8:g.22123739T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22123739T>C , CM000670.2:g.22123739T>C	GRCh38
NC_000008.10:g.21981252T>C , CM000670.1:g.21981252T>C	GRCh37
NC_000008.9:g.22037197T>C	NCBI36
NG_008166.1:g.11779A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381418.9:c.1825A>G MANE Select	ENSP00000370826.4:p.Asn609Asp
ENST00000680789.1:c.1825A>G	ENSP00000505181.1:p.Asn609Asp
ENST00000312841.9:c.1825A>G	ENSP00000326765.8:p.Asn609Asp
ENST00000381418.8:c.1825A>G	ENSP00000370826.4:p.Asn609Asp
NM_005144.4:c.1825A>G	NP_005135.2:p.Asn609Asp
NM_018411.4:c.1825A>G	NP_060881.2:p.Asn609Asp
XM_005273569.1:c.1828A>G	XP_005273626.1:p.Asn610Asp
XM_006716367.1:c.1828A>G	XP_006716430.1:p.Asn610Asp
XM_005273569.2:c.1828A>G	XP_005273626.1:p.Asn610Asp
XM_006716367.2:c.1828A>G	XP_006716430.1:p.Asn610Asp
NM_005144.5:c.1825A>G MANE Select	NP_005135.2:p.Asn609Asp