Canonical Allele Identifier: CA6978336

Gene: NUDT15

Linked Data

• dbSNP Id: rs762092824
• ExAC: 13:48619923 A / C
• gnomAD v2: 13-48619923-A-C
• gnomAD v3: 13-48045787-A-C
• gnomAD v4: 13-48045787-A-C
• MyVariant Identifiers: chr13:g.48619923A>C (hg19) ; chr13:g.48045787A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48045787A>C , CM000675.2:g.48045787A>C	GRCh38
NC_000013.10:g.48619923A>C , CM000675.1:g.48619923A>C	GRCh37
NC_000013.9:g.47517924A>C	NCBI36
NG_047021.1:g.13221A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258662.3:c.483A>C MANE Select	ENSP00000258662.1:p.Gly161=
ENST00000258662.2:c.483A>C	ENSP00000258662.1:p.Gly161=
NM_018283.2:c.483A>C	NP_060753.1:p.Gly161=
NM_018283.3:c.483A>C	NP_060753.1:p.Gly161=
NR_136687.1:n.663A>C
NR_136688.1:n.663A>C
NM_018283.4:c.483A>C MANE Select	NP_060753.1:p.Gly161=
NR_136687.2:n.504A>C
NR_136688.2:n.504A>C