Canonical Allele Identifier: CA9488537
Gene: XRCC1 HGNC NCBI

Linked Data

dbSNP Id: rs372371308
ExAC: 19:44055786 C / T
gnomAD v2: 19-44055786-C-T
gnomAD v3: 19-43551634-C-T
gnomAD v4: 19-43551634-C-T
COSMIC: COSM997630
MyVariant Identifiers: chr19:g.44055786C>T (hg19) chr19:g.43551634C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.43551634C>T , CM000681.2:g.43551634C>T GRCh38
NC_000019.9:g.44055786C>T , CM000681.1:g.44055786C>T GRCh37
NC_000019.8:g.48747626C>T NCBI36
NG_033799.1:g.28945G>A , LRG_784:g.28945G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262887.10:c.1136G>A MANE Select ENSP00000262887.5:p.Arg379His
ENST00000262887.9:c.1136G>A ENSP00000262887.4:p.Arg379His
ENST00000543982.5:c.1043G>A ENSP00000443671.1:p.Arg348His
ENST00000597811.5:c.746G>A
NM_006297.2:c.1136G>A , LRG_784t1:c.1136G>A NP_006288.2:p.Arg379His
NM_006297.3:c.1136G>A MANE Select NP_006288.2:p.Arg379His
Search 100 bp 5'
Search 100 bp 3'