Canonical Allele Identifier: CA609929266
Gene: SUCLA2 HGNC NCBI
NUDT15 HGNC NCBI

Linked Data

dbSNP Id: rs1213099713
gnomAD v2: 13-48611734-T-C
gnomAD v3: 13-48037598-T-C
gnomAD v4: 13-48037598-T-C
MyVariant Identifiers: chr13:g.48611734T>C (hg19) chr13:g.48037598T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48037598T>C , CM000675.2:g.48037598T>C GRCh38
NC_000013.10:g.48611734T>C , CM000675.1:g.48611734T>C GRCh37
NC_000013.9:g.47509735T>C NCBI36
NG_047021.1:g.5032T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000643246.1:c.-163+8A>G (SUCLA2) ENSP00000496235.1:n.-163+8A>G
ENST00000646804.1:c.-85+8A>G (SUCLA2) ENSP00000493977.1:n.-85+8A>G
ENST00000258662.2:c.-149T>C (NUDT15) ENSP00000258662.1:n.-149T>C
NM_001304745.1:c.-149T>C (NUDT15) NP_001291674.1:n.-149T>C
NM_018283.2:c.-149T>C (NUDT15) NP_060753.1:n.-149T>C
NM_018283.3:c.-149T>C (NUDT15) NP_060753.1:n.-149T>C
NR_136687.1:n.32T>C (NUDT15)
NR_136688.1:n.32T>C (NUDT15)
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