Canonical Allele Identifier: CA308774061
Gene: XRCC1 HGNC NCBI

Linked Data

dbSNP Id: rs1041258260
gnomAD v2: 19-44056322-C-T
gnomAD v3: 19-43552170-C-T
gnomAD v4: 19-43552170-C-T
MyVariant Identifiers: chr19:g.44056322C>T (hg19) chr19:g.43552170C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.43552170C>T , CM000681.2:g.43552170C>T GRCh38
NC_000019.9:g.44056322C>T , CM000681.1:g.44056322C>T GRCh37
NC_000019.8:g.48748162C>T NCBI36
NG_033799.1:g.28409G>A , LRG_784:g.28409G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262887.10:c.929G>A MANE Select ENSP00000262887.5:p.Arg310Gln
ENST00000262887.9:c.929G>A ENSP00000262887.4:p.Arg310Gln
ENST00000543982.5:c.836G>A ENSP00000443671.1:p.Arg279Gln
ENST00000595789.5:n.1050G>A
ENST00000597811.5:c.539G>A
ENST00000598422.1:n.609G>A
NM_006297.2:c.929G>A , LRG_784t1:c.929G>A NP_006288.2:p.Arg310Gln
NM_006297.3:c.929G>A MANE Select NP_006288.2:p.Arg310Gln
Search 100 bp 5'
Search 100 bp 3'