Canonical Allele Identifier: CA406203295

Gene: XRCC1

Linked Data

• dbSNP Id: rs2146048890
• MyVariant Identifiers: chr19:g.44055755A>C (hg19) ; chr19:g.43551603A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43551603A>C , CM000681.2:g.43551603A>C	GRCh38
NC_000019.9:g.44055755A>C , CM000681.1:g.44055755A>C	GRCh37
NC_000019.8:g.48747595A>C	NCBI36
NG_033799.1:g.28976T>G , LRG_784:g.28976T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262887.10:c.1167T>G MANE Select	ENSP00000262887.5:p.Cys389Trp
ENST00000262887.9:c.1167T>G	ENSP00000262887.4:p.Cys389Trp
ENST00000543982.5:c.1074T>G	ENSP00000443671.1:p.Cys358Trp
ENST00000597811.5:c.777T>G
NM_006297.2:c.1167T>G , LRG_784t1:c.1167T>G	NP_006288.2:p.Cys389Trp
NM_006297.3:c.1167T>G MANE Select	NP_006288.2:p.Cys389Trp