Canonical Allele Identifier: CA609929279
Gene: SUCLA2 HGNC NCBI
NUDT15 HGNC NCBI

Linked Data

dbSNP Id: rs1023105578
gnomAD v2: 13-48611833-T-C
gnomAD v4: 13-48037697-T-C
MyVariant Identifiers: chr13:g.48611833T>C (hg19) chr13:g.48037697T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48037697T>C , CM000675.2:g.48037697T>C GRCh38
NC_000013.10:g.48611833T>C , CM000675.1:g.48611833T>C GRCh37
NC_000013.9:g.47509834T>C NCBI36
NG_047021.1:g.5131T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000643246.1:c.-254A>G (SUCLA2) ENSP00000496235.1:n.-254A>G
ENST00000646804.1:c.-176A>G (SUCLA2) ENSP00000493977.1:n.-176A>G
ENST00000258662.2:c.-50T>C (NUDT15) ENSP00000258662.1:n.-50T>C
NM_001304745.1:c.-50T>C (NUDT15) NP_001291674.1:n.-50T>C
NM_018283.2:c.-50T>C (NUDT15) NP_060753.1:n.-50T>C
NM_018283.3:c.-50T>C (NUDT15) NP_060753.1:n.-50T>C
NR_136687.1:n.131T>C (NUDT15)
NR_136688.1:n.131T>C (NUDT15)
Search 100 bp 5'
Search 100 bp 3'