Canonical Allele Identifier: CA406204959

Gene: XRCC1

Linked Data

• gnomAD v4: 19-43552162-G-A
• MyVariant Identifiers: chr19:g.44056314G>A (hg19) ; chr19:g.43552162G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43552162G>A , CM000681.2:g.43552162G>A	GRCh38
NC_000019.9:g.44056314G>A , CM000681.1:g.44056314G>A	GRCh37
NC_000019.8:g.48748154G>A	NCBI36
NG_033799.1:g.28417C>T , LRG_784:g.28417C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262887.10:c.937C>T MANE Select	ENSP00000262887.5:p.Pro313Ser
ENST00000262887.9:c.937C>T	ENSP00000262887.4:p.Pro313Ser
ENST00000543982.5:c.844C>T	ENSP00000443671.1:p.Pro282Ser
ENST00000595789.5:n.1058C>T
ENST00000597811.5:c.547C>T
ENST00000598422.1:n.617C>T
NM_006297.2:c.937C>T , LRG_784t1:c.937C>T	NP_006288.2:p.Pro313Ser
NM_006297.3:c.937C>T MANE Select	NP_006288.2:p.Pro313Ser