Canonical Allele Identifier: CA372449154

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143575064-C-A
• MyVariant Identifiers: chr8:g.144657234C>A (hg19) ; chr8:g.143575064C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575064C>A , CM000670.2:g.143575064C>A	GRCh38
NC_000008.10:g.144657234C>A , CM000670.1:g.144657234C>A	GRCh37
NC_000008.9:g.144728377C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1476G>T MANE Select	ENSP00000401508.2:p.Glu492Asp
ENST00000340490.7:c.1476G>T	ENSP00000341136.3:p.Glu492Asp
ENST00000426292.7:c.1437G>T	ENSP00000390949.3:p.Glu479Asp
ENST00000435154.7:c.*100G>T	ENSP00000405670.3:n.*100G>T
ENST00000449291.6:c.1476G>T	ENSP00000401508.2:p.Glu492Asp
ENST00000460623.5:c.415G>T
ENST00000464332.5:n.1020G>T
ENST00000498076.5:n.255G>T
ENST00000529179.1:n.260G>T
NM_001286829.1:c.1437G>T	NP_001273758.1:p.Glu479Asp
NM_145201.5:c.1476G>T	NP_660202.3:p.Glu492Asp
XM_011517377.1:c.1292-164G>T	XP_011515679.1:n.1292-164G>T
NM_001363145.1:c.1395G>T	NP_001350074.1:p.Glu465Asp
NM_001363146.1:c.792G>T	NP_001350075.1:p.Glu264Asp
XM_017013975.2:c.1695G>T	XP_016869464.1:p.Glu565Asp
XM_017013976.2:c.1695G>T	XP_016869465.1:p.Glu565Asp
XM_017013977.2:c.1395G>T	XP_016869466.1:p.Glu465Asp
XM_017013978.2:c.1511-164G>T	XP_016869467.1:n.1511-164G>T
XM_017013979.2:c.792G>T	XP_016869468.1:p.Glu264Asp
XM_024447332.1:c.929-164G>T	XP_024303100.1:n.929-164G>T
XM_024447333.1:c.711G>T	XP_024303101.1:p.Glu237Asp
NM_145201.6:c.1476G>T MANE Select	NP_660202.3:p.Glu492Asp
NM_001286829.2:c.1437G>T	NP_001273758.1:p.Glu479Asp