Canonical Allele Identifier: CA463512146

Gene: NAPRT

Linked Data

• dbSNP Id: rs752094147
• gnomAD v2: 8-144657514-C-A
• gnomAD v4: 8-143575344-C-A
• MyVariant Identifiers: chr8:g.144657514C>A (hg19) ; chr8:g.143575344C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575344C>A , CM000670.2:g.143575344C>A	GRCh38
NC_000008.10:g.144657514C>A , CM000670.1:g.144657514C>A	GRCh37
NC_000008.9:g.144728657C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1293G>T MANE Select	ENSP00000401508.2:p.Gly431=
ENST00000340490.7:c.1293G>T	ENSP00000341136.3:p.Gly431=
ENST00000426292.7:c.1293G>T	ENSP00000390949.3:p.Gly431=
ENST00000435154.7:c.1293G>T	ENSP00000405670.3:p.Gly431=
ENST00000449291.6:c.1293G>T	ENSP00000401508.2:p.Gly431=
ENST00000460623.5:c.271G>T
ENST00000464332.5:n.837G>T
ENST00000498076.5:n.72G>T
NM_001286829.1:c.1293G>T	NP_001273758.1:p.Gly431=
NM_145201.5:c.1293G>T	NP_660202.3:p.Gly431=
XM_011517377.1:c.1291+79G>T	XP_011515679.1:n.1291+79G>T
NM_001363145.1:c.1212G>T	NP_001350074.1:p.Gly404=
NM_001363146.1:c.609G>T	NP_001350075.1:p.Gly203=
XM_017013975.2:c.1512G>T	XP_016869464.1:p.Gly504=
XM_017013976.2:c.1512G>T	XP_016869465.1:p.Gly504=
XM_017013977.2:c.1212G>T	XP_016869466.1:p.Gly404=
XM_017013978.2:c.1510+79G>T	XP_016869467.1:n.1510+79G>T
XM_017013979.2:c.609G>T	XP_016869468.1:p.Gly203=
XM_024447332.1:c.928+79G>T	XP_024303100.1:n.928+79G>T
XM_024447333.1:c.528G>T	XP_024303101.1:p.Gly176=
NM_145201.6:c.1293G>T MANE Select	NP_660202.3:p.Gly431=
NM_001286829.2:c.1293G>T	NP_001273758.1:p.Gly431=