Canonical Allele Identifier: CA1825861178
Gene: NAPRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143574979C= , CM000670.2:g.143574979C= GRCh38
NC_000008.10:g.144657149C= , CM000670.1:g.144657149C= GRCh37
NC_000008.9:g.144728292C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000449291.7:c.1554+7G= MANE Select ENSP00000401508.2:n.1554+7G=
ENST00000340490.7:c.1561G= ENSP00000341136.3:p.Gly521=
ENST00000426292.7:c.1515+7G= ENSP00000390949.3:n.1515+7G=
ENST00000435154.7:c.*185G= ENSP00000405670.3:n.*185G=
ENST00000449291.6:c.1554+7G= ENSP00000401508.2:n.1554+7G=
ENST00000460623.5:c.500G=
ENST00000464332.5:n.1098+7G=
ENST00000498076.5:n.333+7G=
ENST00000529179.1:n.338+7G=
NM_001286829.1:c.1515+7G= NP_001273758.1:n.1515+7G=
NM_145201.5:c.1554+7G= NP_660202.3:n.1554+7G=
XM_011517377.1:c.1292-79G= XP_011515679.1:n.1292-79G=
NM_001363145.1:c.1473+7G= NP_001350074.1:n.1473+7G=
NM_001363146.1:c.870+7G= NP_001350075.1:n.870+7G=
XM_017013975.2:c.1780G= XP_016869464.1:p.Gly594=
XM_017013976.2:c.1773+7G= XP_016869465.1:n.1773+7G=
XM_017013977.2:c.1480G= XP_016869466.1:p.Gly494=
XM_017013978.2:c.1511-79G= XP_016869467.1:n.1511-79G=
XM_017013979.2:c.877G= XP_016869468.1:p.Gly293=
XM_024447332.1:c.929-79G= XP_024303100.1:n.929-79G=
XM_024447333.1:c.796G= XP_024303101.1:p.Gly266=
NM_145201.6:c.1554+7G= MANE Select NP_660202.3:n.1554+7G=
NM_001286829.2:c.1515+7G= NP_001273758.1:n.1515+7G=