Canonical Allele Identifier: CA4912706
Gene: NAPRT HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs2290416

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143575430G>A , CM000670.2:g.143575430G>A GRCh38
NC_000008.10:g.144657600G>A , CM000670.1:g.144657600G>A GRCh37
NC_000008.9:g.144728743G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_001286829.1:c.1284C>T VV NP_001273758.1:p.Gly428=
NM_145201.5:c.1284C>T VV NP_660202.3:p.Gly428=
XM_011517377.1:c.1284C>T XP_011515679.1:p.Gly428=
NM_001363145.1:c.1203C>T VV NP_001350074.1:p.Gly401=
NM_001363146.1:c.600C>T VV NP_001350075.1:p.Gly200=
XM_017013975.2:c.1503C>T XP_016869464.1:p.Gly501=
XM_017013976.2:c.1503C>T XP_016869465.1:p.Gly501=
XM_017013977.2:c.1203C>T XP_016869466.1:p.Gly401=
XM_017013978.2:c.1503C>T XP_016869467.1:p.Gly501=
XM_017013979.2:c.600C>T XP_016869468.1:p.Gly200=
XM_024447332.1:c.921C>T XP_024303100.1:p.Gly307=
XM_024447333.1:c.519C>T XP_024303101.1:p.Gly173=
NM_145201.6:c.1284C>T VV MANE Preferred NP_660202.3:p.Gly428=
ENST00000340490.7:c.1284C>T ENSP00000341136.3:p.Gly428=
ENST00000426292.7:c.1284C>T ENSP00000390949.3:p.Gly428=
ENST00000435154.7:c.1284C>T ENSP00000405670.3:p.Gly428=
ENST00000449291.6:c.1284C>T ENSP00000401508.2:p.Gly428=
ENST00000460623.5:n.262C>T
ENST00000464332.5:n.828C>T