Canonical Allele Identifier: CA249270244

Gene: SUCLA2 NUDT15

Linked Data

• dbSNP Id: rs954023184
• gnomAD v4: 13-48037616-T-C
• MyVariant Identifiers: chr13:g.48611752T>C (hg19) ; chr13:g.48037616T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48037616T>C , CM000675.2:g.48037616T>C	GRCh38
NC_000013.10:g.48611752T>C , CM000675.1:g.48611752T>C	GRCh37
NC_000013.9:g.47509753T>C	NCBI36
NG_047021.1:g.5050T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000643246.1:c.-173A>G (SUCLA2)	ENSP00000496235.1:n.-173A>G
ENST00000646804.1:c.-95A>G (SUCLA2)	ENSP00000493977.1:n.-95A>G
ENST00000258662.2:c.-131T>C (NUDT15)	ENSP00000258662.1:n.-131T>C
NM_001304745.1:c.-131T>C (NUDT15)	NP_001291674.1:n.-131T>C
NM_018283.2:c.-131T>C (NUDT15)	NP_060753.1:n.-131T>C
NM_018283.3:c.-131T>C (NUDT15)	NP_060753.1:n.-131T>C
NR_136687.1:n.50T>C (NUDT15)
NR_136688.1:n.50T>C (NUDT15)