Canonical Allele Identifier: CA406203195

Gene: XRCC1

Linked Data

• dbSNP Id: rs200842482
• gnomAD v4: 19-43551592-C-A
• MyVariant Identifiers: chr19:g.44055744C>A (hg19) ; chr19:g.43551592C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43551592C>A , CM000681.2:g.43551592C>A	GRCh38
NC_000019.9:g.44055744C>A , CM000681.1:g.44055744C>A	GRCh37
NC_000019.8:g.48747584C>A	NCBI36
NG_033799.1:g.28987G>T , LRG_784:g.28987G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262887.10:c.1178G>T MANE Select	ENSP00000262887.5:p.Arg393Leu
ENST00000262887.9:c.1178G>T	ENSP00000262887.4:p.Arg393Leu
ENST00000543982.5:c.1085G>T	ENSP00000443671.1:p.Arg362Leu
ENST00000597811.5:c.788G>T
NM_006297.2:c.1178G>T , LRG_784t1:c.1178G>T	NP_006288.2:p.Arg393Leu
NM_006297.3:c.1178G>T MANE Select	NP_006288.2:p.Arg393Leu