Canonical Allele Identifier: CA2089829678

Gene: SUCLA2 NUDT15

Linked Data

• dbSNP Id: rs1950540639
• gnomAD v4: 13-48037601-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48037601C>G , CM000675.2:g.48037601C>G	GRCh38
NC_000013.10:g.48611737C>G , CM000675.1:g.48611737C>G	GRCh37
NC_000013.9:g.47509738C>G	NCBI36
NG_047021.1:g.5035C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000643246.1:c.-163+5G>C (SUCLA2)	ENSP00000496235.1:n.-163+5G>C
ENST00000646804.1:c.-85+5G>C (SUCLA2)	ENSP00000493977.1:n.-85+5G>C
ENST00000258662.2:c.-146C>G (NUDT15)	ENSP00000258662.1:n.-146C>G
NM_001304745.1:c.-146C>G (NUDT15)	NP_001291674.1:n.-146C>G
NM_018283.2:c.-146C>G (NUDT15)	NP_060753.1:n.-146C>G
NM_018283.3:c.-146C>G (NUDT15)	NP_060753.1:n.-146C>G
NR_136687.1:n.35C>G (NUDT15)
NR_136688.1:n.35C>G (NUDT15)