Canonical Allele Identifier: CA2622968190
Gene: SUCLA2 HGNC NCBI
NUDT15 HGNC NCBI

Linked Data

gnomAD v4: 13-48037590-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48037590G>A , CM000675.2:g.48037590G>A GRCh38
NC_000013.10:g.48611726G>A , CM000675.1:g.48611726G>A GRCh37
NC_000013.9:g.47509727G>A NCBI36
NG_047021.1:g.5024G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000643246.1:c.-163+16C>T (SUCLA2) ENSP00000496235.1:n.-163+16C>T
ENST00000646804.1:c.-85+16C>T (SUCLA2) ENSP00000493977.1:n.-85+16C>T
ENST00000258662.2:c.-157G>A (NUDT15) ENSP00000258662.1:n.-157G>A
NM_001304745.1:c.-157G>A (NUDT15) NP_001291674.1:n.-157G>A
NM_018283.2:c.-157G>A (NUDT15) NP_060753.1:n.-157G>A
NM_018283.3:c.-157G>A (NUDT15) NP_060753.1:n.-157G>A
NR_136687.1:n.24G>A (NUDT15)
NR_136688.1:n.24G>A (NUDT15)
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