Canonical Allele Identifier: CA358313

Gene: NUDT15 SUCLA2

Linked Data

• ClinVar Variation Id: 225203
• ClinVar RCV Id: RCV000210850 ; RCV003937795
• dbSNP Id: rs186364861
• ExAC: 13:48611934 G / A
• gnomAD v2: 13-48611934-G-A
• gnomAD v3: 13-48037798-G-A
• gnomAD v4: 13-48037798-G-A
• MyVariant Identifiers: chr13:g.48611934G>A (hg19) ; chr13:g.48037798G>A (hg38)
• PubMed: PMID:26878724

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)