Canonical Allele Identifier: CA388154191

Gene: NUDT15

Linked Data

• MyVariant Identifiers: chr13:g.48619829C>T (hg19) ; chr13:g.48045693C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48045693C>T , CM000675.2:g.48045693C>T	GRCh38
NC_000013.10:g.48619829C>T , CM000675.1:g.48619829C>T	GRCh37
NC_000013.9:g.47517830C>T	NCBI36
NG_047021.1:g.13127C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258662.3:c.389C>T MANE Select	ENSP00000258662.1:p.Pro130Leu
ENST00000258662.2:c.389C>T	ENSP00000258662.1:p.Pro130Leu
NM_018283.2:c.389C>T	NP_060753.1:p.Pro130Leu
NM_018283.3:c.389C>T	NP_060753.1:p.Pro130Leu
NR_136687.1:n.569C>T
NR_136688.1:n.569C>T
NM_018283.4:c.389C>T MANE Select	NP_060753.1:p.Pro130Leu
NR_136687.2:n.410C>T
NR_136688.2:n.410C>T