Canonical Allele Identifier: CA388149868

Gene: NUDT15 SUCLA2

Linked Data

• dbSNP Id: rs1950543785
• gnomAD v4: 13-48037795-G-A
• MyVariant Identifiers: chr13:g.48611931G>A (hg19) ; chr13:g.48037795G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48037795G>A , CM000675.2:g.48037795G>A	GRCh38
NC_000013.10:g.48611931G>A , CM000675.1:g.48611931G>A	GRCh37
NC_000013.9:g.47509932G>A	NCBI36
NG_047021.1:g.5229G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258662.3:c.49G>A (NUDT15) MANE Select	ENSP00000258662.1:p.Gly17Arg
ENST00000643246.1:c.-352C>T (SUCLA2)	ENSP00000496235.1:n.-352C>T
ENST00000646804.1:c.-274C>T (SUCLA2)	ENSP00000493977.1:n.-274C>T
ENST00000258662.2:c.49G>A (NUDT15)	ENSP00000258662.1:p.Gly17Arg
NM_001304745.1:c.49G>A (NUDT15)	NP_001291674.1:p.Gly17Arg
NM_018283.2:c.49G>A (NUDT15)	NP_060753.1:p.Gly17Arg
NM_018283.3:c.49G>A (NUDT15)	NP_060753.1:p.Gly17Arg
NR_136687.1:n.229G>A (NUDT15)
NR_136688.1:n.229G>A (NUDT15)
NM_018283.4:c.49G>A (NUDT15) MANE Select	NP_060753.1:p.Gly17Arg
NM_001304745.2:c.49G>A (NUDT15)	NP_001291674.1:p.Gly17Arg
NR_136687.2:n.70G>A (NUDT15)
NR_136688.2:n.70G>A (NUDT15)