Canonical Allele Identifier: CA483557611
Gene: NUDT15 HGNC NCBI
SUCLA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.48611921A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48037785A>C , CM000675.2:g.48037785A>C GRCh38
NC_000013.10:g.48611921A>C , CM000675.1:g.48611921A>C GRCh37
NC_000013.9:g.47509922A>C NCBI36
NG_047021.1:g.5219A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000258662.3:c.39A>C (NUDT15) MANE Select ENSP00000258662.1:p.Gly13=
ENST00000643246.1:c.-342T>G (SUCLA2) ENSP00000496235.1:n.-342T>G
ENST00000646804.1:c.-264T>G (SUCLA2) ENSP00000493977.1:n.-264T>G
ENST00000258662.2:c.39A>C (NUDT15) ENSP00000258662.1:p.Gly13=
NM_001304745.1:c.39A>C (NUDT15) NP_001291674.1:p.Gly13=
NM_018283.2:c.39A>C (NUDT15) NP_060753.1:p.Gly13=
NM_018283.3:c.39A>C (NUDT15) NP_060753.1:p.Gly13=
NR_136687.1:n.219A>C (NUDT15)
NR_136688.1:n.219A>C (NUDT15)
NM_018283.4:c.39A>C (NUDT15) MANE Select NP_060753.1:p.Gly13=
NM_001304745.2:c.39A>C (NUDT15) NP_001291674.1:p.Gly13=
NR_136687.2:n.60A>C (NUDT15)
NR_136688.2:n.60A>C (NUDT15)