Canonical Allele Identifier: CA372450665
Gene: NAPRT HGNC NCBI

Linked Data

dbSNP Id: rs1563929881

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143575426C>A , CM000670.2:g.143575426C>A GRCh38
NC_000008.10:g.144657596C>A , CM000670.1:g.144657596C>A GRCh37
NC_000008.9:g.144728739C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000449291.7:c.1288G>T MANE Select ENSP00000401508.2:p.Asp430Tyr
ENST00000340490.7:c.1288G>T ENSP00000341136.3:p.Asp430Tyr
ENST00000426292.7:c.1288G>T ENSP00000390949.3:p.Asp430Tyr
ENST00000435154.7:c.1288G>T ENSP00000405670.3:p.Asp430Tyr
ENST00000449291.6:c.1288G>T ENSP00000401508.2:p.Asp430Tyr
ENST00000460623.5:c.266G>T
ENST00000464332.5:n.832G>T
NM_001286829.1:c.1288G>T NP_001273758.1:p.Asp430Tyr
NM_145201.5:c.1288G>T NP_660202.3:p.Asp430Tyr
XM_011517377.1:c.1288G>T XP_011515679.1:p.Asp430Tyr
NM_001363145.1:c.1207G>T NP_001350074.1:p.Asp403Tyr
NM_001363146.1:c.604G>T NP_001350075.1:p.Asp202Tyr
XM_017013975.2:c.1507G>T XP_016869464.1:p.Asp503Tyr
XM_017013976.2:c.1507G>T XP_016869465.1:p.Asp503Tyr
XM_017013977.2:c.1207G>T XP_016869466.1:p.Asp403Tyr
XM_017013978.2:c.1507G>T XP_016869467.1:p.Asp503Tyr
XM_017013979.2:c.604G>T XP_016869468.1:p.Asp202Tyr
XM_024447332.1:c.925G>T XP_024303100.1:p.Asp309Tyr
XM_024447333.1:c.523G>T XP_024303101.1:p.Asp175Tyr
NM_145201.6:c.1288G>T MANE Select NP_660202.3:p.Asp430Tyr
NM_001286829.2:c.1288G>T NP_001273758.1:p.Asp430Tyr