Canonical Allele Identifier: CA6978337

Gene: NUDT15

Linked Data

• dbSNP Id: rs376403083
• ExAC: 13:48619929 T / C
• gnomAD v2: 13-48619929-T-C
• gnomAD v4: 13-48045793-T-C
• MyVariant Identifiers: chr13:g.48619929T>C (hg19) ; chr13:g.48045793T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48045793T>C , CM000675.2:g.48045793T>C	GRCh38
NC_000013.10:g.48619929T>C , CM000675.1:g.48619929T>C	GRCh37
NC_000013.9:g.47517930T>C	NCBI36
NG_047021.1:g.13227T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258662.3:c.489T>C MANE Select	ENSP00000258662.1:p.His163=
ENST00000258662.2:c.489T>C	ENSP00000258662.1:p.His163=
NM_018283.2:c.489T>C	NP_060753.1:p.His163=
NM_018283.3:c.489T>C	NP_060753.1:p.His163=
NR_136687.1:n.669T>C
NR_136688.1:n.669T>C
NM_018283.4:c.489T>C MANE Select	NP_060753.1:p.His163=
NR_136687.2:n.510T>C
NR_136688.2:n.510T>C