Canonical Allele Identifier: CA507741266

Gene: XRCC1

Linked Data

• dbSNP Id: rs1405854994
• gnomAD v2: 19-44056414-A-G
• gnomAD v4: 19-43552262-A-G
• MyVariant Identifiers: chr19:g.44056414A>G (hg19) ; chr19:g.43552262A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43552262A>G , CM000681.2:g.43552262A>G	GRCh38
NC_000019.9:g.44056414A>G , CM000681.1:g.44056414A>G	GRCh37
NC_000019.8:g.48748254A>G	NCBI36
NG_033799.1:g.28317T>C , LRG_784:g.28317T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262887.10:c.837T>C MANE Select	ENSP00000262887.5:p.Thr279=
ENST00000262887.9:c.837T>C	ENSP00000262887.4:p.Thr279=
ENST00000543982.5:c.744T>C	ENSP00000443671.1:p.Thr248=
ENST00000595789.5:n.958T>C
ENST00000597811.5:c.447T>C
ENST00000598165.5:c.858T>C	ENSP00000470045.1:p.Thr286=
ENST00000598422.1:n.517T>C
NM_006297.2:c.837T>C , LRG_784t1:c.837T>C	NP_006288.2:p.Thr279=
NM_006297.3:c.837T>C MANE Select	NP_006288.2:p.Thr279=