Canonical Allele Identifier: CA4912724
Gene: NAPRT HGNC NCBI

Linked Data

ClinVar Variation Id: 3175295
ClinVar RCV Id: RCV004466624
dbSNP Id: rs768085460

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143575486C>T , CM000670.2:g.143575486C>T GRCh38
NC_000008.10:g.144657656C>T , CM000670.1:g.144657656C>T GRCh37
NC_000008.9:g.144728799C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000449291.7:c.1228G>A MANE Select ENSP00000401508.2:p.Glu410Lys
ENST00000340490.7:c.1228G>A ENSP00000341136.3:p.Glu410Lys
ENST00000426292.7:c.1228G>A ENSP00000390949.3:p.Glu410Lys
ENST00000435154.7:c.1228G>A ENSP00000405670.3:p.Glu410Lys
ENST00000449291.6:c.1228G>A ENSP00000401508.2:p.Glu410Lys
ENST00000460623.5:c.206G>A
ENST00000464332.5:n.772G>A
ENST00000525583.5:c.1012G>A
NM_001286829.1:c.1228G>A NP_001273758.1:p.Glu410Lys
NM_145201.5:c.1228G>A NP_660202.3:p.Glu410Lys
XM_011517377.1:c.1228G>A XP_011515679.1:p.Glu410Lys
NM_001363145.1:c.1147G>A NP_001350074.1:p.Glu383Lys
NM_001363146.1:c.544G>A NP_001350075.1:p.Glu182Lys
XM_017013975.2:c.1447G>A XP_016869464.1:p.Glu483Lys
XM_017013976.2:c.1447G>A XP_016869465.1:p.Glu483Lys
XM_017013977.2:c.1147G>A XP_016869466.1:p.Glu383Lys
XM_017013978.2:c.1447G>A XP_016869467.1:p.Glu483Lys
XM_017013979.2:c.544G>A XP_016869468.1:p.Glu182Lys
XM_024447332.1:c.865G>A XP_024303100.1:p.Glu289Lys
XM_024447333.1:c.463G>A XP_024303101.1:p.Glu155Lys
NM_145201.6:c.1228G>A MANE Select NP_660202.3:p.Glu410Lys
NM_001286829.2:c.1228G>A NP_001273758.1:p.Glu410Lys