Canonical Allele Identifier: CA249270216

Gene: SUCLA2 NUDT15

Linked Data

• dbSNP Id: rs1011447752
• gnomAD v4: 13-48037592-G-T
• MyVariant Identifiers: chr13:g.48611728G>T (hg19) ; chr13:g.48037592G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48037592G>T , CM000675.2:g.48037592G>T	GRCh38
NC_000013.10:g.48611728G>T , CM000675.1:g.48611728G>T	GRCh37
NC_000013.9:g.47509729G>T	NCBI36
NG_047021.1:g.5026G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000643246.1:c.-163+14C>A (SUCLA2)	ENSP00000496235.1:n.-163+14C>A
ENST00000646804.1:c.-85+14C>A (SUCLA2)	ENSP00000493977.1:n.-85+14C>A
ENST00000258662.2:c.-155G>T (NUDT15)	ENSP00000258662.1:n.-155G>T
NM_001304745.1:c.-155G>T (NUDT15)	NP_001291674.1:n.-155G>T
NM_018283.2:c.-155G>T (NUDT15)	NP_060753.1:n.-155G>T
NM_018283.3:c.-155G>T (NUDT15)	NP_060753.1:n.-155G>T
NR_136687.1:n.26G>T (NUDT15)
NR_136688.1:n.26G>T (NUDT15)