Canonical Allele Identifier: CA1825861119

Gene: NAPRT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574888C= , CM000670.2:g.143574888C=	GRCh38
NC_000008.10:g.144657058C= , CM000670.1:g.144657058C=	GRCh37
NC_000008.9:g.144728201C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1567G= MANE Select	ENSP00000401508.2:p.Glu523=
ENST00000340490.7:c.1652G=	ENSP00000341136.3:p.Arg551=
ENST00000426292.7:c.1528G=	ENSP00000390949.3:p.Glu510=
ENST00000435154.7:c.*276G=	ENSP00000405670.3:n.*276G=
ENST00000449291.6:c.1567G=	ENSP00000401508.2:p.Glu523=
ENST00000460623.5:c.591G=
ENST00000464332.5:n.1111G=
ENST00000498076.5:n.346G=
ENST00000529179.1:n.351G=
NM_001286829.1:c.1528G=	NP_001273758.1:p.Glu510=
NM_145201.5:c.1567G=	NP_660202.3:p.Glu523=
XM_011517377.1:c.1304G=	XP_011515679.1:p.Arg435=
NM_001363145.1:c.1486G=	NP_001350074.1:p.Glu496=
NM_001363146.1:c.883G=	NP_001350075.1:p.Glu295=
XM_017013975.2:c.1871G=	XP_016869464.1:p.Arg624=
XM_017013976.2:c.1786G=	XP_016869465.1:p.Glu596=
XM_017013977.2:c.1571G=	XP_016869466.1:p.Arg524=
XM_017013978.2:c.1523G=	XP_016869467.1:p.Arg508=
XM_017013979.2:c.968G=	XP_016869468.1:p.Arg323=
XM_024447332.1:c.941G=	XP_024303100.1:p.Arg314=
XM_024447333.1:c.887G=	XP_024303101.1:p.Arg296=
NM_145201.6:c.1567G= MANE Select	NP_660202.3:p.Glu523=
NM_001286829.2:c.1528G=	NP_001273758.1:p.Glu510=