Canonical Allele Identifier: CA406204972
Gene: XRCC1 HGNC NCBI

Linked Data

dbSNP Id: rs1330060921
gnomAD v2: 19-44056320-C-G
gnomAD v4: 19-43552168-C-G
MyVariant Identifiers: chr19:g.44056320C>G (hg19) chr19:g.43552168C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.43552168C>G , CM000681.2:g.43552168C>G GRCh38
NC_000019.9:g.44056320C>G , CM000681.1:g.44056320C>G GRCh37
NC_000019.8:g.48748160C>G NCBI36
NG_033799.1:g.28411G>C , LRG_784:g.28411G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262887.10:c.931G>C MANE Select ENSP00000262887.5:p.Ala311Pro
ENST00000262887.9:c.931G>C ENSP00000262887.4:p.Ala311Pro
ENST00000543982.5:c.838G>C ENSP00000443671.1:p.Ala280Pro
ENST00000595789.5:n.1052G>C
ENST00000597811.5:c.541G>C
ENST00000598422.1:n.611G>C
NM_006297.2:c.931G>C , LRG_784t1:c.931G>C NP_006288.2:p.Ala311Pro
NM_006297.3:c.931G>C MANE Select NP_006288.2:p.Ala311Pro
Search 100 bp 5'
Search 100 bp 3'