Canonical Allele Identifier: CA4912617
Gene: NAPRT HGNC NCBI

Linked Data

ClinVar Variation Id: 2206973
ClinVar RCV Id: RCV004071372
dbSNP Id: rs772227017

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143575086T>C , CM000670.2:g.143575086T>C GRCh38
NC_000008.10:g.144657256T>C , CM000670.1:g.144657256T>C GRCh37
NC_000008.9:g.144728399T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000449291.7:c.1454A>G MANE Select ENSP00000401508.2:p.Glu485Gly
ENST00000340490.7:c.1454A>G ENSP00000341136.3:p.Glu485Gly
ENST00000426292.7:c.1415A>G ENSP00000390949.3:p.Glu472Gly
ENST00000435154.7:c.*78A>G ENSP00000405670.3:n.*78A>G
ENST00000449291.6:c.1454A>G ENSP00000401508.2:p.Glu485Gly
ENST00000460623.5:c.393A>G
ENST00000464332.5:n.998A>G
ENST00000498076.5:n.233A>G
ENST00000529179.1:n.238A>G
NM_001286829.1:c.1415A>G NP_001273758.1:p.Glu472Gly
NM_145201.5:c.1454A>G NP_660202.3:p.Glu485Gly
XM_011517377.1:c.1292-186A>G XP_011515679.1:n.1292-186A>G
NM_001363145.1:c.1373A>G NP_001350074.1:p.Glu458Gly
NM_001363146.1:c.770A>G NP_001350075.1:p.Glu257Gly
XM_017013975.2:c.1673A>G XP_016869464.1:p.Glu558Gly
XM_017013976.2:c.1673A>G XP_016869465.1:p.Glu558Gly
XM_017013977.2:c.1373A>G XP_016869466.1:p.Glu458Gly
XM_017013978.2:c.1511-186A>G XP_016869467.1:n.1511-186A>G
XM_017013979.2:c.770A>G XP_016869468.1:p.Glu257Gly
XM_024447332.1:c.929-186A>G XP_024303100.1:n.929-186A>G
XM_024447333.1:c.689A>G XP_024303101.1:p.Glu230Gly
NM_145201.6:c.1454A>G MANE Select NP_660202.3:p.Glu485Gly
NM_001286829.2:c.1415A>G NP_001273758.1:p.Glu472Gly