Canonical Allele Identifier: CA372449309

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143575075-A-G
• MyVariant Identifiers: chr8:g.144657245A>G (hg19) ; chr8:g.143575075A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575075A>G , CM000670.2:g.143575075A>G	GRCh38
NC_000008.10:g.144657245A>G , CM000670.1:g.144657245A>G	GRCh37
NC_000008.9:g.144728388A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1465T>C MANE Select	ENSP00000401508.2:p.Ser489Pro
ENST00000340490.7:c.1465T>C	ENSP00000341136.3:p.Ser489Pro
ENST00000426292.7:c.1426T>C	ENSP00000390949.3:p.Ser476Pro
ENST00000435154.7:c.*89T>C	ENSP00000405670.3:n.*89T>C
ENST00000449291.6:c.1465T>C	ENSP00000401508.2:p.Ser489Pro
ENST00000460623.5:c.404T>C
ENST00000464332.5:n.1009T>C
ENST00000498076.5:n.244T>C
ENST00000529179.1:n.249T>C
NM_001286829.1:c.1426T>C	NP_001273758.1:p.Ser476Pro
NM_145201.5:c.1465T>C	NP_660202.3:p.Ser489Pro
XM_011517377.1:c.1292-175T>C	XP_011515679.1:n.1292-175T>C
NM_001363145.1:c.1384T>C	NP_001350074.1:p.Ser462Pro
NM_001363146.1:c.781T>C	NP_001350075.1:p.Ser261Pro
XM_017013975.2:c.1684T>C	XP_016869464.1:p.Ser562Pro
XM_017013976.2:c.1684T>C	XP_016869465.1:p.Ser562Pro
XM_017013977.2:c.1384T>C	XP_016869466.1:p.Ser462Pro
XM_017013978.2:c.1511-175T>C	XP_016869467.1:n.1511-175T>C
XM_017013979.2:c.781T>C	XP_016869468.1:p.Ser261Pro
XM_024447332.1:c.929-175T>C	XP_024303100.1:n.929-175T>C
XM_024447333.1:c.700T>C	XP_024303101.1:p.Ser234Pro
NM_145201.6:c.1465T>C MANE Select	NP_660202.3:p.Ser489Pro
NM_001286829.2:c.1426T>C	NP_001273758.1:p.Ser476Pro