Canonical Allele Identifier: CA1825861157
Gene: NAPRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143574943G= , CM000670.2:g.143574943G= GRCh38
NC_000008.10:g.144657113G= , CM000670.1:g.144657113G= GRCh37
NC_000008.9:g.144728256G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000449291.7:c.1555-43C= MANE Select ENSP00000401508.2:n.1555-43C=
ENST00000340490.7:c.1597C= ENSP00000341136.3:p.Arg533=
ENST00000426292.7:c.1516-43C= ENSP00000390949.3:n.1516-43C=
ENST00000435154.7:c.*221C= ENSP00000405670.3:n.*221C=
ENST00000449291.6:c.1555-43C= ENSP00000401508.2:n.1555-43C=
ENST00000460623.5:c.536C=
ENST00000464332.5:n.1099-43C=
ENST00000498076.5:n.334-43C=
ENST00000529179.1:n.339-43C=
NM_001286829.1:c.1516-43C= NP_001273758.1:n.1516-43C=
NM_145201.5:c.1555-43C= NP_660202.3:n.1555-43C=
XM_011517377.1:c.1292-43C= XP_011515679.1:n.1292-43C=
NM_001363145.1:c.1474-43C= NP_001350074.1:n.1474-43C=
NM_001363146.1:c.871-43C= NP_001350075.1:n.871-43C=
XM_017013975.2:c.1816C= XP_016869464.1:p.Arg606=
XM_017013976.2:c.1774-43C= XP_016869465.1:n.1774-43C=
XM_017013977.2:c.1516C= XP_016869466.1:p.Arg506=
XM_017013978.2:c.1511-43C= XP_016869467.1:n.1511-43C=
XM_017013979.2:c.913C= XP_016869468.1:p.Arg305=
XM_024447332.1:c.929-43C= XP_024303100.1:n.929-43C=
XM_024447333.1:c.832C= XP_024303101.1:p.Arg278=
NM_145201.6:c.1555-43C= MANE Select NP_660202.3:n.1555-43C=
NM_001286829.2:c.1516-43C= NP_001273758.1:n.1516-43C=