Canonical Allele Identifier: CA698678938
Gene: SUCLA2 HGNC NCBI
NUDT15 HGNC NCBI

Linked Data

dbSNP Id: rs1011447752
gnomAD v4: 13-48037592-G-A
MyVariant Identifiers: chr13:g.48611728G>A (hg19) chr13:g.48037592G>A (hg38)
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Genomic Alleles

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

Transcript Alleles

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