Canonical Allele Identifier: CA372450382
Gene: NAPRT HGNC NCBI

Linked Data

dbSNP Id: rs1220092471

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143575337G>A , CM000670.2:g.143575337G>A GRCh38
NC_000008.10:g.144657507G>A , CM000670.1:g.144657507G>A GRCh37
NC_000008.9:g.144728650G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000449291.7:c.1300C>T MANE Select ENSP00000401508.2:p.Leu434Phe
ENST00000340490.7:c.1300C>T ENSP00000341136.3:p.Leu434Phe
ENST00000426292.7:c.1300C>T ENSP00000390949.3:p.Leu434Phe
ENST00000435154.7:c.1300C>T ENSP00000405670.3:p.Leu434Phe
ENST00000449291.6:c.1300C>T ENSP00000401508.2:p.Leu434Phe
ENST00000460623.5:c.278C>T
ENST00000464332.5:n.844C>T
ENST00000498076.5:n.79C>T
NM_001286829.1:c.1300C>T NP_001273758.1:p.Leu434Phe
NM_145201.5:c.1300C>T NP_660202.3:p.Leu434Phe
XM_011517377.1:c.1291+86C>T XP_011515679.1:n.1291+86C>T
NM_001363145.1:c.1219C>T NP_001350074.1:p.Leu407Phe
NM_001363146.1:c.616C>T NP_001350075.1:p.Leu206Phe
XM_017013975.2:c.1519C>T XP_016869464.1:p.Leu507Phe
XM_017013976.2:c.1519C>T XP_016869465.1:p.Leu507Phe
XM_017013977.2:c.1219C>T XP_016869466.1:p.Leu407Phe
XM_017013978.2:c.1510+86C>T XP_016869467.1:n.1510+86C>T
XM_017013979.2:c.616C>T XP_016869468.1:p.Leu206Phe
XM_024447332.1:c.928+86C>T XP_024303100.1:n.928+86C>T
XM_024447333.1:c.535C>T XP_024303101.1:p.Leu179Phe
NM_145201.6:c.1300C>T MANE Select NP_660202.3:p.Leu434Phe
NM_001286829.2:c.1300C>T NP_001273758.1:p.Leu434Phe