Canonical Allele Identifier: CA388149856

Gene: NUDT15 SUCLA2

Linked Data

• gnomAD v4: 13-48037786-G-T
• MyVariant Identifiers: chr13:g.48611922G>T (hg19) ; chr13:g.48037786G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48037786G>T , CM000675.2:g.48037786G>T	GRCh38
NC_000013.10:g.48611922G>T , CM000675.1:g.48611922G>T	GRCh37
NC_000013.9:g.47509923G>T	NCBI36
NG_047021.1:g.5220G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258662.3:c.40G>T (NUDT15) MANE Select	ENSP00000258662.1:p.Val14Phe
ENST00000643246.1:c.-343C>A (SUCLA2)	ENSP00000496235.1:n.-343C>A
ENST00000646804.1:c.-265C>A (SUCLA2)	ENSP00000493977.1:n.-265C>A
ENST00000258662.2:c.40G>T (NUDT15)	ENSP00000258662.1:p.Val14Phe
NM_001304745.1:c.40G>T (NUDT15)	NP_001291674.1:p.Val14Phe
NM_018283.2:c.40G>T (NUDT15)	NP_060753.1:p.Val14Phe
NM_018283.3:c.40G>T (NUDT15)	NP_060753.1:p.Val14Phe
NR_136687.1:n.220G>T (NUDT15)
NR_136688.1:n.220G>T (NUDT15)
NM_018283.4:c.40G>T (NUDT15) MANE Select	NP_060753.1:p.Val14Phe
NM_001304745.2:c.40G>T (NUDT15)	NP_001291674.1:p.Val14Phe
NR_136687.2:n.61G>T (NUDT15)
NR_136688.2:n.61G>T (NUDT15)