Canonical Allele Identifier: CA406205538

Gene: XRCC1

Linked Data

• gnomAD v4: 19-43552267-G-C
• MyVariant Identifiers: chr19:g.44056419G>C (hg19) ; chr19:g.43552267G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262887.10:c.832C>G MANE Select	ENSP00000262887.5:p.Pro278Ala
ENST00000262887.9:c.832C>G	ENSP00000262887.4:p.Pro278Ala
ENST00000543982.5:c.739C>G	ENSP00000443671.1:p.Pro247Ala
ENST00000595789.5:n.953C>G
ENST00000597811.5:c.442C>G
ENST00000598165.5:c.853C>G	ENSP00000470045.1:p.Pro285Ala
ENST00000598422.1:n.512C>G
NM_006297.2:c.832C>G , LRG_784t1:c.832C>G	NP_006288.2:p.Pro278Ala
NM_006297.3:c.832C>G MANE Select	NP_006288.2:p.Pro278Ala