Canonical Allele Identifier: CA2622969258
Gene: NUDT15 HGNC NCBI

Linked Data

gnomAD v4: 13-48045988-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48045988G>A , CM000675.2:g.48045988G>A GRCh38
NC_000013.10:g.48620124G>A , CM000675.1:g.48620124G>A GRCh37
NC_000013.9:g.47518125G>A NCBI36
NG_047021.1:g.13422G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258662.3:c.*189G>A MANE Select ENSP00000258662.1:n.*189G>A
ENST00000258662.2:c.*189G>A ENSP00000258662.1:n.*189G>A
NM_018283.2:c.*189G>A NP_060753.1:n.*189G>A
NM_018283.3:c.*189G>A NP_060753.1:n.*189G>A
NR_136687.1:n.718+146G>A
NR_136688.1:n.675+189G>A
NM_018283.4:c.*189G>A MANE Select NP_060753.1:n.*189G>A
NR_136687.2:n.559+146G>A
NR_136688.2:n.516+189G>A
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