Canonical Allele Identifier: CA1825861222

Gene: NAPRT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575049G= , CM000670.2:g.143575049G=	GRCh38
NC_000008.10:g.144657219G= , CM000670.1:g.144657219G=	GRCh37
NC_000008.9:g.144728362G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1491C= MANE Select	ENSP00000401508.2:p.Ala497=
ENST00000340490.7:c.1491C=	ENSP00000341136.3:p.Ala497=
ENST00000426292.7:c.1452C=	ENSP00000390949.3:p.Ala484=
ENST00000435154.7:c.*115C=	ENSP00000405670.3:n.*115C=
ENST00000449291.6:c.1491C=	ENSP00000401508.2:p.Ala497=
ENST00000460623.5:c.430C=
ENST00000464332.5:n.1035C=
ENST00000498076.5:n.270C=
ENST00000529179.1:n.275C=
NM_001286829.1:c.1452C=	NP_001273758.1:p.Ala484=
NM_145201.5:c.1491C=	NP_660202.3:p.Ala497=
XM_011517377.1:c.1292-149C=	XP_011515679.1:n.1292-149C=
NM_001363145.1:c.1410C=	NP_001350074.1:p.Ala470=
NM_001363146.1:c.807C=	NP_001350075.1:p.Ala269=
XM_017013975.2:c.1710C=	XP_016869464.1:p.Ala570=
XM_017013976.2:c.1710C=	XP_016869465.1:p.Ala570=
XM_017013977.2:c.1410C=	XP_016869466.1:p.Ala470=
XM_017013978.2:c.1511-149C=	XP_016869467.1:n.1511-149C=
XM_017013979.2:c.807C=	XP_016869468.1:p.Ala269=
XM_024447332.1:c.929-149C=	XP_024303100.1:n.929-149C=
XM_024447333.1:c.726C=	XP_024303101.1:p.Ala242=
NM_145201.6:c.1491C= MANE Select	NP_660202.3:p.Ala497=
NM_001286829.2:c.1452C=	NP_001273758.1:p.Ala484=