Canonical Allele Identifier: CA1825861231

Gene: NAPRT

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1476G= MANE Select	ENSP00000401508.2:p.Glu492=
ENST00000340490.7:c.1476G=	ENSP00000341136.3:p.Glu492=
ENST00000426292.7:c.1437G=	ENSP00000390949.3:p.Glu479=
ENST00000435154.7:c.*100G=	ENSP00000405670.3:n.*100G=
ENST00000449291.6:c.1476G=	ENSP00000401508.2:p.Glu492=
ENST00000460623.5:c.415G=
ENST00000464332.5:n.1020G=
ENST00000498076.5:n.255G=
ENST00000529179.1:n.260G=
NM_001286829.1:c.1437G=	NP_001273758.1:p.Glu479=
NM_145201.5:c.1476G=	NP_660202.3:p.Glu492=
XM_011517377.1:c.1292-164G=	XP_011515679.1:n.1292-164G=
NM_001363145.1:c.1395G=	NP_001350074.1:p.Glu465=
NM_001363146.1:c.792G=	NP_001350075.1:p.Glu264=
XM_017013975.2:c.1695G=	XP_016869464.1:p.Glu565=
XM_017013976.2:c.1695G=	XP_016869465.1:p.Glu565=
XM_017013977.2:c.1395G=	XP_016869466.1:p.Glu465=
XM_017013978.2:c.1511-164G=	XP_016869467.1:n.1511-164G=
XM_017013979.2:c.792G=	XP_016869468.1:p.Glu264=
XM_024447332.1:c.929-164G=	XP_024303100.1:n.929-164G=
XM_024447333.1:c.711G=	XP_024303101.1:p.Glu237=
NM_145201.6:c.1476G= MANE Select	NP_660202.3:p.Glu492=
NM_001286829.2:c.1437G=	NP_001273758.1:p.Glu479=