Canonical Allele Identifier: CA1825861148
Gene: NAPRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143574934G= , CM000670.2:g.143574934G= GRCh38
NC_000008.10:g.144657104G= , CM000670.1:g.144657104G= GRCh37
NC_000008.9:g.144728247G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000449291.7:c.1555-34C= MANE Select ENSP00000401508.2:n.1555-34C=
ENST00000340490.7:c.1606C= ENSP00000341136.3:p.Pro536=
ENST00000426292.7:c.1516-34C= ENSP00000390949.3:n.1516-34C=
ENST00000435154.7:c.*230C= ENSP00000405670.3:n.*230C=
ENST00000449291.6:c.1555-34C= ENSP00000401508.2:n.1555-34C=
ENST00000460623.5:c.545C=
ENST00000464332.5:n.1099-34C=
ENST00000498076.5:n.334-34C=
ENST00000529179.1:n.339-34C=
NM_001286829.1:c.1516-34C= NP_001273758.1:n.1516-34C=
NM_145201.5:c.1555-34C= NP_660202.3:n.1555-34C=
XM_011517377.1:c.1292-34C= XP_011515679.1:n.1292-34C=
NM_001363145.1:c.1474-34C= NP_001350074.1:n.1474-34C=
NM_001363146.1:c.871-34C= NP_001350075.1:n.871-34C=
XM_017013975.2:c.1825C= XP_016869464.1:p.Pro609=
XM_017013976.2:c.1774-34C= XP_016869465.1:n.1774-34C=
XM_017013977.2:c.1525C= XP_016869466.1:p.Pro509=
XM_017013978.2:c.1511-34C= XP_016869467.1:n.1511-34C=
XM_017013979.2:c.922C= XP_016869468.1:p.Pro308=
XM_024447332.1:c.929-34C= XP_024303100.1:n.929-34C=
XM_024447333.1:c.841C= XP_024303101.1:p.Pro281=
NM_145201.6:c.1555-34C= MANE Select NP_660202.3:n.1555-34C=
NM_001286829.2:c.1516-34C= NP_001273758.1:n.1516-34C=