LDH info

Canonical Allele Identifier: CA358364
Gene: NUDT15 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 225201
dbSNP Id: rs116855232

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48045719C>T , CM000675.2:g.48045719C>T GRCh38
NC_000013.10:g.48619855C>T , CM000675.1:g.48619855C>T GRCh37
NC_000013.9:g.47517856C>T NCBI36
NG_047021.1:g.13153C>T

Transcript Alleles

HGVS Amino-acid change
NM_018283.2:c.415C>T VV NP_060753.1:p.Arg139Cys
NM_018283.3:c.415C>T VV NP_060753.1:p.Arg139Cys
NR_136687.1:n.595C>T
NR_136688.1:n.595C>T
NM_018283.4:c.415C>T VV MANE Preferred NP_060753.1:p.Arg139Cys
ENST00000258662.2:c.415C>T ENSP00000258662.1:p.Arg139Cys