Canonical Allele Identifier: CA2718725994

Gene: NAPRT

Linked Data

• dbSNP Id: rs2130688059

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574970T>C , CM000670.2:g.143574970T>C	GRCh38
NC_000008.10:g.144657140T>C , CM000670.1:g.144657140T>C	GRCh37
NC_000008.9:g.144728283T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1554+16A>G MANE Select	ENSP00000401508.2:n.1554+16A>G
ENST00000340490.7:c.1570A>G	ENSP00000341136.3:p.Thr524Ala
ENST00000426292.7:c.1515+16A>G	ENSP00000390949.3:n.1515+16A>G
ENST00000435154.7:c.*194A>G	ENSP00000405670.3:n.*194A>G
ENST00000449291.6:c.1554+16A>G	ENSP00000401508.2:n.1554+16A>G
ENST00000460623.5:c.509A>G
ENST00000464332.5:n.1098+16A>G
ENST00000498076.5:n.333+16A>G
ENST00000529179.1:n.338+16A>G
NM_001286829.1:c.1515+16A>G	NP_001273758.1:n.1515+16A>G
NM_145201.5:c.1554+16A>G	NP_660202.3:n.1554+16A>G
XM_011517377.1:c.1292-70A>G	XP_011515679.1:n.1292-70A>G
NM_001363145.1:c.1473+16A>G	NP_001350074.1:n.1473+16A>G
NM_001363146.1:c.870+16A>G	NP_001350075.1:n.870+16A>G
XM_017013975.2:c.1789A>G	XP_016869464.1:p.Thr597Ala
XM_017013976.2:c.1773+16A>G	XP_016869465.1:n.1773+16A>G
XM_017013977.2:c.1489A>G	XP_016869466.1:p.Thr497Ala
XM_017013978.2:c.1511-70A>G	XP_016869467.1:n.1511-70A>G
XM_017013979.2:c.886A>G	XP_016869468.1:p.Thr296Ala
XM_024447332.1:c.929-70A>G	XP_024303100.1:n.929-70A>G
XM_024447333.1:c.805A>G	XP_024303101.1:p.Thr269Ala
NM_145201.6:c.1554+16A>G MANE Select	NP_660202.3:n.1554+16A>G
NM_001286829.2:c.1515+16A>G	NP_001273758.1:n.1515+16A>G