Canonical Allele Identifier: CA388154369
Gene: NUDT15 HGNC NCBI

Linked Data

gnomAD v4: 13-48045736-A-C
MyVariant Identifiers: chr13:g.48619872A>C (hg19) chr13:g.48045736A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48045736A>C , CM000675.2:g.48045736A>C GRCh38
NC_000013.10:g.48619872A>C , CM000675.1:g.48619872A>C GRCh37
NC_000013.9:g.47517873A>C NCBI36
NG_047021.1:g.13170A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258662.3:c.432A>C MANE Select ENSP00000258662.1:p.Gln144His
ENST00000258662.2:c.432A>C ENSP00000258662.1:p.Gln144His
NM_018283.2:c.432A>C NP_060753.1:p.Gln144His
NM_018283.3:c.432A>C NP_060753.1:p.Gln144His
NR_136687.1:n.612A>C
NR_136688.1:n.612A>C
NM_018283.4:c.432A>C MANE Select NP_060753.1:p.Gln144His
NR_136687.2:n.453A>C
NR_136688.2:n.453A>C
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