Canonical Allele Identifier: CA6978192

Gene: NUDT15 SUCLA2

Linked Data

• dbSNP Id: rs779488127
• ExAC: 13:48611929 T / C
• gnomAD v2: 13-48611929-T-C
• gnomAD v3: 13-48037793-T-C
• gnomAD v4: 13-48037793-T-C
• MyVariant Identifiers: chr13:g.48611929T>C (hg19) ; chr13:g.48037793T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48037793T>C , CM000675.2:g.48037793T>C	GRCh38
NC_000013.10:g.48611929T>C , CM000675.1:g.48611929T>C	GRCh37
NC_000013.9:g.47509930T>C	NCBI36
NG_047021.1:g.5227T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258662.3:c.47T>C (NUDT15) MANE Select	ENSP00000258662.1:p.Val16Ala
ENST00000643246.1:c.-350A>G (SUCLA2)	ENSP00000496235.1:n.-350A>G
ENST00000646804.1:c.-272A>G (SUCLA2)	ENSP00000493977.1:n.-272A>G
ENST00000258662.2:c.47T>C (NUDT15)	ENSP00000258662.1:p.Val16Ala
NM_001304745.1:c.47T>C (NUDT15)	NP_001291674.1:p.Val16Ala
NM_018283.2:c.47T>C (NUDT15)	NP_060753.1:p.Val16Ala
NM_018283.3:c.47T>C (NUDT15)	NP_060753.1:p.Val16Ala
NR_136687.1:n.227T>C (NUDT15)
NR_136688.1:n.227T>C (NUDT15)
NM_018283.4:c.47T>C (NUDT15) MANE Select	NP_060753.1:p.Val16Ala
NM_001304745.2:c.47T>C (NUDT15)	NP_001291674.1:p.Val16Ala
NR_136687.2:n.68T>C (NUDT15)
NR_136688.2:n.68T>C (NUDT15)