Canonical Allele Identifier: CA308773418
Gene: XRCC1 HGNC NCBI

Linked Data

dbSNP Id: rs751456113
gnomAD v2: 19-44055784-T-C
gnomAD v4: 19-43551632-T-C
MyVariant Identifiers: chr19:g.44055784T>C (hg19) chr19:g.43551632T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.43551632T>C , CM000681.2:g.43551632T>C GRCh38
NC_000019.9:g.44055784T>C , CM000681.1:g.44055784T>C GRCh37
NC_000019.8:g.48747624T>C NCBI36
NG_033799.1:g.28947A>G , LRG_784:g.28947A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262887.10:c.1138A>G MANE Select ENSP00000262887.5:p.Ile380Val
ENST00000262887.9:c.1138A>G ENSP00000262887.4:p.Ile380Val
ENST00000543982.5:c.1045A>G ENSP00000443671.1:p.Ile349Val
ENST00000597811.5:c.748A>G
NM_006297.2:c.1138A>G , LRG_784t1:c.1138A>G NP_006288.2:p.Ile380Val
NM_006297.3:c.1138A>G MANE Select NP_006288.2:p.Ile380Val
Search 100 bp 5'
Search 100 bp 3'