Canonical Allele Identifier: CA9488615
Gene: XRCC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3053358
ClinVar RCV Id: RCV003963945
dbSNP Id: rs25491
ExAC: 19:44056326 G / A
gnomAD v2: 19-44056326-G-A
gnomAD v3: 19-43552174-G-A
gnomAD v4: 19-43552174-G-A
MyVariant Identifiers: chr19:g.44056326G>A (hg19) chr19:g.43552174G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.43552174G>A , CM000681.2:g.43552174G>A GRCh38
NC_000019.9:g.44056326G>A , CM000681.1:g.44056326G>A GRCh37
NC_000019.8:g.48748166G>A NCBI36
NG_033799.1:g.28405C>T , LRG_784:g.28405C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262887.10:c.925C>T MANE Select ENSP00000262887.5:p.Pro309Ser
ENST00000262887.9:c.925C>T ENSP00000262887.4:p.Pro309Ser
ENST00000543982.5:c.832C>T ENSP00000443671.1:p.Pro278Ser
ENST00000595789.5:n.1046C>T
ENST00000597811.5:c.535C>T
ENST00000598422.1:n.605C>T
NM_006297.2:c.925C>T , LRG_784t1:c.925C>T NP_006288.2:p.Pro309Ser
NM_006297.3:c.925C>T MANE Select NP_006288.2:p.Pro309Ser
Search 100 bp 5'
Search 100 bp 3'