Canonical Allele Identifier: CA2622968195
Gene: SUCLA2 HGNC NCBI
NUDT15 HGNC NCBI

Linked Data

gnomAD v4: 13-48037594-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48037594C>T , CM000675.2:g.48037594C>T GRCh38
NC_000013.10:g.48611730C>T , CM000675.1:g.48611730C>T GRCh37
NC_000013.9:g.47509731C>T NCBI36
NG_047021.1:g.5028C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000643246.1:c.-163+12G>A (SUCLA2) ENSP00000496235.1:n.-163+12G>A
ENST00000646804.1:c.-85+12G>A (SUCLA2) ENSP00000493977.1:n.-85+12G>A
ENST00000258662.2:c.-153C>T (NUDT15) ENSP00000258662.1:n.-153C>T
NM_001304745.1:c.-153C>T (NUDT15) NP_001291674.1:n.-153C>T
NM_018283.2:c.-153C>T (NUDT15) NP_060753.1:n.-153C>T
NM_018283.3:c.-153C>T (NUDT15) NP_060753.1:n.-153C>T
NR_136687.1:n.28C>T (NUDT15)
NR_136688.1:n.28C>T (NUDT15)
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