Canonical Allele Identifier: CA955767861
Gene: SUCLA2 HGNC NCBI
NUDT15 HGNC NCBI

Linked Data

dbSNP Id: rs1950540779
gnomAD v3: 13-48037617-G-A
gnomAD v4: 13-48037617-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48037617G>A , CM000675.2:g.48037617G>A GRCh38
NC_000013.10:g.48611753G>A , CM000675.1:g.48611753G>A GRCh37
NC_000013.9:g.47509754G>A NCBI36
NG_047021.1:g.5051G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000643246.1:c.-174C>T (SUCLA2) ENSP00000496235.1:n.-174C>T
ENST00000646804.1:c.-96C>T (SUCLA2) ENSP00000493977.1:n.-96C>T
ENST00000258662.2:c.-130G>A (NUDT15) ENSP00000258662.1:n.-130G>A
NM_001304745.1:c.-130G>A (NUDT15) NP_001291674.1:n.-130G>A
NM_018283.2:c.-130G>A (NUDT15) NP_060753.1:n.-130G>A
NM_018283.3:c.-130G>A (NUDT15) NP_060753.1:n.-130G>A
NR_136687.1:n.51G>A (NUDT15)
NR_136688.1:n.51G>A (NUDT15)
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