Canonical Allele Identifier: CA406203459

Gene: XRCC1

Linked Data

• dbSNP Id: rs751456113
• gnomAD v4: 19-43551632-T-A
• MyVariant Identifiers: chr19:g.44055784T>A (hg19) ; chr19:g.43551632T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262887.10:c.1138A>T MANE Select	ENSP00000262887.5:p.Ile380Phe
ENST00000262887.9:c.1138A>T	ENSP00000262887.4:p.Ile380Phe
ENST00000543982.5:c.1045A>T	ENSP00000443671.1:p.Ile349Phe
ENST00000597811.5:c.748A>T
NM_006297.2:c.1138A>T , LRG_784t1:c.1138A>T	NP_006288.2:p.Ile380Phe
NM_006297.3:c.1138A>T MANE Select	NP_006288.2:p.Ile380Phe