Canonical Allele Identifier: CA358313
Gene: NUDT15 HGNC NCBI
SUCLA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 225203
ClinVar RCV Id: RCV000210850
dbSNP Id: rs186364861

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48037798G>A , CM000675.2:g.48037798G>A GRCh38
NC_000013.10:g.48611934G>A , CM000675.1:g.48611934G>A GRCh37
NC_000013.9:g.47509935G>A NCBI36
NG_047021.1:g.5232G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000258662.3:c.52G>A (NUDT15) MANE Select ENSP00000258662.1:p.Val18Ile
ENST00000643246.1:c.-355C>T (SUCLA2) ENSP00000496235.1:n.-355C>T
ENST00000646804.1:c.-277C>T (SUCLA2) ENSP00000493977.1:n.-277C>T
ENST00000258662.2:c.52G>A (NUDT15) ENSP00000258662.1:p.Val18Ile
NM_001304745.1:c.52G>A (NUDT15) NP_001291674.1:p.Val18Ile
NM_018283.2:c.52G>A (NUDT15) NP_060753.1:p.Val18Ile
NM_018283.3:c.52G>A (NUDT15) NP_060753.1:p.Val18Ile
NR_136687.1:n.232G>A (NUDT15)
NR_136688.1:n.232G>A (NUDT15)
NM_018283.4:c.52G>A (NUDT15) MANE Select NP_060753.1:p.Val18Ile
NM_001304745.2:c.52G>A (NUDT15) NP_001291674.1:p.Val18Ile
NR_136687.2:n.73G>A (NUDT15)
NR_136688.2:n.73G>A (NUDT15)