Canonical Allele Identifier: CA249274104

Gene: NUDT15

Linked Data

• dbSNP Id: rs1026010382
• gnomAD v2: 13-48619854-G-C
• gnomAD v3: 13-48045718-G-C
• gnomAD v4: 13-48045718-G-C
• MyVariant Identifiers: chr13:g.48619854G>C (hg19) ; chr13:g.48045718G>C (hg38)

Genomic Alleles

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

Transcript Alleles

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