Canonical Allele Identifier: CA1825861165
Gene: NAPRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143574954G= , CM000670.2:g.143574954G= GRCh38
NC_000008.10:g.144657124G= , CM000670.1:g.144657124G= GRCh37
NC_000008.9:g.144728267G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000449291.7:c.1554+32C= MANE Select ENSP00000401508.2:n.1554+32C=
ENST00000340490.7:c.1586C= ENSP00000341136.3:p.Pro529=
ENST00000426292.7:c.1515+32C= ENSP00000390949.3:n.1515+32C=
ENST00000435154.7:c.*210C= ENSP00000405670.3:n.*210C=
ENST00000449291.6:c.1554+32C= ENSP00000401508.2:n.1554+32C=
ENST00000460623.5:c.525C=
ENST00000464332.5:n.1098+32C=
ENST00000498076.5:n.333+32C=
ENST00000529179.1:n.338+32C=
NM_001286829.1:c.1515+32C= NP_001273758.1:n.1515+32C=
NM_145201.5:c.1554+32C= NP_660202.3:n.1554+32C=
XM_011517377.1:c.1292-54C= XP_011515679.1:n.1292-54C=
NM_001363145.1:c.1473+32C= NP_001350074.1:n.1473+32C=
NM_001363146.1:c.870+32C= NP_001350075.1:n.870+32C=
XM_017013975.2:c.1805C= XP_016869464.1:p.Pro602=
XM_017013976.2:c.1773+32C= XP_016869465.1:n.1773+32C=
XM_017013977.2:c.1505C= XP_016869466.1:p.Pro502=
XM_017013978.2:c.1511-54C= XP_016869467.1:n.1511-54C=
XM_017013979.2:c.902C= XP_016869468.1:p.Pro301=
XM_024447332.1:c.929-54C= XP_024303100.1:n.929-54C=
XM_024447333.1:c.821C= XP_024303101.1:p.Pro274=
NM_145201.6:c.1554+32C= MANE Select NP_660202.3:n.1554+32C=
NM_001286829.2:c.1515+32C= NP_001273758.1:n.1515+32C=