Canonical Allele Identifier: CA698678942
Gene: SUCLA2 HGNC NCBI
NUDT15 HGNC NCBI

Linked Data

dbSNP Id: rs1423262073
gnomAD v3: 13-48037608-C-T
gnomAD v4: 13-48037608-C-T
MyVariant Identifiers: chr13:g.48611744C>T (hg19) chr13:g.48037608C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48037608C>T , CM000675.2:g.48037608C>T GRCh38
NC_000013.10:g.48611744C>T , CM000675.1:g.48611744C>T GRCh37
NC_000013.9:g.47509745C>T NCBI36
NG_047021.1:g.5042C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000643246.1:c.-165G>A (SUCLA2) ENSP00000496235.1:n.-165G>A
ENST00000646804.1:c.-87G>A (SUCLA2) ENSP00000493977.1:n.-87G>A
ENST00000258662.2:c.-139C>T (NUDT15) ENSP00000258662.1:n.-139C>T
NM_001304745.1:c.-139C>T (NUDT15) NP_001291674.1:n.-139C>T
NM_018283.2:c.-139C>T (NUDT15) NP_060753.1:n.-139C>T
NM_018283.3:c.-139C>T (NUDT15) NP_060753.1:n.-139C>T
NR_136687.1:n.42C>T (NUDT15)
NR_136688.1:n.42C>T (NUDT15)
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