Canonical Allele Identifier: CA6978161
Gene: SUCLA2 HGNC NCBI
NUDT15 HGNC NCBI

Linked Data

dbSNP Id: rs372209884
ExAC: 13:48611837 G / A
gnomAD v2: 13-48611837-G-A
gnomAD v3: 13-48037701-G-A
gnomAD v4: 13-48037701-G-A
MyVariant Identifiers: chr13:g.48611837G>A (hg19) chr13:g.48037701G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48037701G>A , CM000675.2:g.48037701G>A GRCh38
NC_000013.10:g.48611837G>A , CM000675.1:g.48611837G>A GRCh37
NC_000013.9:g.47509838G>A NCBI36
NG_047021.1:g.5135G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000643246.1:c.-258C>T (SUCLA2) ENSP00000496235.1:n.-258C>T
ENST00000646804.1:c.-180C>T (SUCLA2) ENSP00000493977.1:n.-180C>T
ENST00000258662.2:c.-46G>A (NUDT15) ENSP00000258662.1:n.-46G>A
NM_001304745.1:c.-46G>A (NUDT15) NP_001291674.1:n.-46G>A
NM_018283.2:c.-46G>A (NUDT15) NP_060753.1:n.-46G>A
NM_018283.3:c.-46G>A (NUDT15) NP_060753.1:n.-46G>A
NR_136687.1:n.135G>A (NUDT15)
NR_136688.1:n.135G>A (NUDT15)
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