Canonical Allele Identifier: CA698678940
Gene: SUCLA2 HGNC NCBI
NUDT15 HGNC NCBI

Linked Data

dbSNP Id: rs1338433453
gnomAD v3: 13-48037596-C-A
gnomAD v4: 13-48037596-C-A
MyVariant Identifiers: chr13:g.48611732C>A (hg19) chr13:g.48037596C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48037596C>A , CM000675.2:g.48037596C>A GRCh38
NC_000013.10:g.48611732C>A , CM000675.1:g.48611732C>A GRCh37
NC_000013.9:g.47509733C>A NCBI36
NG_047021.1:g.5030C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000643246.1:c.-163+10G>T (SUCLA2) ENSP00000496235.1:n.-163+10G>T
ENST00000646804.1:c.-85+10G>T (SUCLA2) ENSP00000493977.1:n.-85+10G>T
ENST00000258662.2:c.-151C>A (NUDT15) ENSP00000258662.1:n.-151C>A
NM_001304745.1:c.-151C>A (NUDT15) NP_001291674.1:n.-151C>A
NM_018283.2:c.-151C>A (NUDT15) NP_060753.1:n.-151C>A
NM_018283.3:c.-151C>A (NUDT15) NP_060753.1:n.-151C>A
NR_136687.1:n.30C>A (NUDT15)
NR_136688.1:n.30C>A (NUDT15)
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