Canonical Allele Identifier: CA483558037
Gene: NUDT15 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.48619854G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48045718G>A , CM000675.2:g.48045718G>A GRCh38
NC_000013.10:g.48619854G>A , CM000675.1:g.48619854G>A GRCh37
NC_000013.9:g.47517855G>A NCBI36
NG_047021.1:g.13152G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258662.3:c.414G>A MANE Select ENSP00000258662.1:p.Leu138=
ENST00000258662.2:c.414G>A ENSP00000258662.1:p.Leu138=
NM_018283.2:c.414G>A NP_060753.1:p.Leu138=
NM_018283.3:c.414G>A NP_060753.1:p.Leu138=
NR_136687.1:n.594G>A
NR_136688.1:n.594G>A
NM_018283.4:c.414G>A MANE Select NP_060753.1:p.Leu138=
NR_136687.2:n.435G>A
NR_136688.2:n.435G>A