Canonical Allele Identifier: CA6978344

Gene: NUDT15

Linked Data

• dbSNP Id: rs778631332
• ExAC: 13:48619955 T / C
• gnomAD v2: 13-48619955-T-C
• gnomAD v4: 13-48045819-T-C
• MyVariant Identifiers: chr13:g.48619955T>C (hg19) ; chr13:g.48045819T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48045819T>C , CM000675.2:g.48045819T>C	GRCh38
NC_000013.10:g.48619955T>C , CM000675.1:g.48619955T>C	GRCh37
NC_000013.9:g.47517956T>C	NCBI36
NG_047021.1:g.13253T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258662.3:c.*20T>C MANE Select	ENSP00000258662.1:n.*20T>C
ENST00000258662.2:c.*20T>C	ENSP00000258662.1:n.*20T>C
NM_018283.2:c.*20T>C	NP_060753.1:n.*20T>C
NM_018283.3:c.*20T>C	NP_060753.1:n.*20T>C
NR_136687.1:n.695T>C
NR_136688.1:n.675+20T>C
NM_018283.4:c.*20T>C MANE Select	NP_060753.1:n.*20T>C
NR_136687.2:n.536T>C
NR_136688.2:n.516+20T>C