Canonical Allele Identifier: CA9488649
Gene: XRCC1 HGNC NCBI

Linked Data

dbSNP Id: rs766776327
ExAC: 19:44056413 G / A
gnomAD v2: 19-44056413-G-A
gnomAD v3: 19-43552261-G-A
gnomAD v4: 19-43552261-G-A
MyVariant Identifiers: chr19:g.44056413G>A (hg19) chr19:g.43552261G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.43552261G>A , CM000681.2:g.43552261G>A GRCh38
NC_000019.9:g.44056413G>A , CM000681.1:g.44056413G>A GRCh37
NC_000019.8:g.48748253G>A NCBI36
NG_033799.1:g.28318C>T , LRG_784:g.28318C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262887.10:c.838C>T MANE Select ENSP00000262887.5:p.Arg280Cys
ENST00000262887.9:c.838C>T ENSP00000262887.4:p.Arg280Cys
ENST00000543982.5:c.745C>T ENSP00000443671.1:p.Arg249Cys
ENST00000595789.5:n.959C>T
ENST00000597811.5:c.448C>T
ENST00000598165.5:c.859C>T ENSP00000470045.1:p.Arg287Cys
ENST00000598422.1:n.518C>T
NM_006297.2:c.838C>T , LRG_784t1:c.838C>T NP_006288.2:p.Arg280Cys
NM_006297.3:c.838C>T MANE Select NP_006288.2:p.Arg280Cys
Search 100 bp 5'
Search 100 bp 3'