Canonical Allele Identifier: CA483557620
Gene: NUDT15 HGNC NCBI
SUCLA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.48611930C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48037794C>G , CM000675.2:g.48037794C>G GRCh38
NC_000013.10:g.48611930C>G , CM000675.1:g.48611930C>G GRCh37
NC_000013.9:g.47509931C>G NCBI36
NG_047021.1:g.5228C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258662.3:c.48C>G (NUDT15) MANE Select ENSP00000258662.1:p.Val16=
ENST00000643246.1:c.-351G>C (SUCLA2) ENSP00000496235.1:n.-351G>C
ENST00000646804.1:c.-273G>C (SUCLA2) ENSP00000493977.1:n.-273G>C
ENST00000258662.2:c.48C>G (NUDT15) ENSP00000258662.1:p.Val16=
NM_001304745.1:c.48C>G (NUDT15) NP_001291674.1:p.Val16=
NM_018283.2:c.48C>G (NUDT15) NP_060753.1:p.Val16=
NM_018283.3:c.48C>G (NUDT15) NP_060753.1:p.Val16=
NR_136687.1:n.228C>G (NUDT15)
NR_136688.1:n.228C>G (NUDT15)
NM_018283.4:c.48C>G (NUDT15) MANE Select NP_060753.1:p.Val16=
NM_001304745.2:c.48C>G (NUDT15) NP_001291674.1:p.Val16=
NR_136687.2:n.69C>G (NUDT15)
NR_136688.2:n.69C>G (NUDT15)