Canonical Allele Identifier: CA483557616

Gene: NUDT15 SUCLA2

Linked Data

• dbSNP Id: rs1233679343
• gnomAD v2: 13-48611924-C-A
• gnomAD v4: 13-48037788-C-A
• MyVariant Identifiers: chr13:g.48611924C>A (hg19) ; chr13:g.48037788C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48037788C>A , CM000675.2:g.48037788C>A	GRCh38
NC_000013.10:g.48611924C>A , CM000675.1:g.48611924C>A	GRCh37
NC_000013.9:g.47509925C>A	NCBI36
NG_047021.1:g.5222C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258662.3:c.42C>A (NUDT15) MANE Select	ENSP00000258662.1:p.Val14=
ENST00000643246.1:c.-345G>T (SUCLA2)	ENSP00000496235.1:n.-345G>T
ENST00000646804.1:c.-267G>T (SUCLA2)	ENSP00000493977.1:n.-267G>T
ENST00000258662.2:c.42C>A (NUDT15)	ENSP00000258662.1:p.Val14=
NM_001304745.1:c.42C>A (NUDT15)	NP_001291674.1:p.Val14=
NM_018283.2:c.42C>A (NUDT15)	NP_060753.1:p.Val14=
NM_018283.3:c.42C>A (NUDT15)	NP_060753.1:p.Val14=
NR_136687.1:n.222C>A (NUDT15)
NR_136688.1:n.222C>A (NUDT15)
NM_018283.4:c.42C>A (NUDT15) MANE Select	NP_060753.1:p.Val14=
NM_001304745.2:c.42C>A (NUDT15)	NP_001291674.1:p.Val14=
NR_136687.2:n.63C>A (NUDT15)
NR_136688.2:n.63C>A (NUDT15)