Canonical Allele Identifier: CA388154571
Gene: NUDT15 HGNC NCBI

Linked Data

gnomAD v4: 13-48045794-C-A
MyVariant Identifiers: chr13:g.48619930C>A (hg19) chr13:g.48045794C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48045794C>A , CM000675.2:g.48045794C>A GRCh38
NC_000013.10:g.48619930C>A , CM000675.1:g.48619930C>A GRCh37
NC_000013.9:g.47517931C>A NCBI36
NG_047021.1:g.13228C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258662.3:c.490C>A MANE Select ENSP00000258662.1:p.Leu164Ile
ENST00000258662.2:c.490C>A ENSP00000258662.1:p.Leu164Ile
NM_018283.2:c.490C>A NP_060753.1:p.Leu164Ile
NM_018283.3:c.490C>A NP_060753.1:p.Leu164Ile
NR_136687.1:n.670C>A
NR_136688.1:n.670C>A
NM_018283.4:c.490C>A MANE Select NP_060753.1:p.Leu164Ile
NR_136687.2:n.511C>A
NR_136688.2:n.511C>A
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