Canonical Allele Identifier: CA4912609
Gene: NAPRT HGNC NCBI

Linked Data

dbSNP Id: rs568311804

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143575059C>G , CM000670.2:g.143575059C>G GRCh38
NC_000008.10:g.144657229C>G , CM000670.1:g.144657229C>G GRCh37
NC_000008.9:g.144728372C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000449291.7:c.1481G>C MANE Select ENSP00000401508.2:p.Arg494Thr
ENST00000340490.7:c.1481G>C ENSP00000341136.3:p.Arg494Thr
ENST00000426292.7:c.1442G>C ENSP00000390949.3:p.Arg481Thr
ENST00000435154.7:c.*105G>C ENSP00000405670.3:n.*105G>C
ENST00000449291.6:c.1481G>C ENSP00000401508.2:p.Arg494Thr
ENST00000460623.5:c.420G>C
ENST00000464332.5:n.1025G>C
ENST00000498076.5:n.260G>C
ENST00000529179.1:n.265G>C
NM_001286829.1:c.1442G>C NP_001273758.1:p.Arg481Thr
NM_145201.5:c.1481G>C NP_660202.3:p.Arg494Thr
XM_011517377.1:c.1292-159G>C XP_011515679.1:n.1292-159G>C
NM_001363145.1:c.1400G>C NP_001350074.1:p.Arg467Thr
NM_001363146.1:c.797G>C NP_001350075.1:p.Arg266Thr
XM_017013975.2:c.1700G>C XP_016869464.1:p.Arg567Thr
XM_017013976.2:c.1700G>C XP_016869465.1:p.Arg567Thr
XM_017013977.2:c.1400G>C XP_016869466.1:p.Arg467Thr
XM_017013978.2:c.1511-159G>C XP_016869467.1:n.1511-159G>C
XM_017013979.2:c.797G>C XP_016869468.1:p.Arg266Thr
XM_024447332.1:c.929-159G>C XP_024303100.1:n.929-159G>C
XM_024447333.1:c.716G>C XP_024303101.1:p.Arg239Thr
NM_145201.6:c.1481G>C MANE Select NP_660202.3:p.Arg494Thr
NM_001286829.2:c.1442G>C NP_001273758.1:p.Arg481Thr