Canonical Allele Identifier: CA9488650

Gene: XRCC1

Linked Data

• dbSNP Id: rs752529647
• ExAC: 19:44056419 G / A
• gnomAD v2: 19-44056419-G-A
• gnomAD v4: 19-43552267-G-A
• MyVariant Identifiers: chr19:g.44056419G>A (hg19) ; chr19:g.43552267G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43552267G>A , CM000681.2:g.43552267G>A	GRCh38
NC_000019.9:g.44056419G>A , CM000681.1:g.44056419G>A	GRCh37
NC_000019.8:g.48748259G>A	NCBI36
NG_033799.1:g.28312C>T , LRG_784:g.28312C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262887.10:c.832C>T MANE Select	ENSP00000262887.5:p.Pro278Ser
ENST00000262887.9:c.832C>T	ENSP00000262887.4:p.Pro278Ser
ENST00000543982.5:c.739C>T	ENSP00000443671.1:p.Pro247Ser
ENST00000595789.5:n.953C>T
ENST00000597811.5:c.442C>T
ENST00000598165.5:c.853C>T	ENSP00000470045.1:p.Pro285Ser
ENST00000598422.1:n.512C>T
NM_006297.2:c.832C>T , LRG_784t1:c.832C>T	NP_006288.2:p.Pro278Ser
NM_006297.3:c.832C>T MANE Select	NP_006288.2:p.Pro278Ser