Canonical Allele Identifier: CA1825861223

Gene: NAPRT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575051C= , CM000670.2:g.143575051C=	GRCh38
NC_000008.10:g.144657221C= , CM000670.1:g.144657221C=	GRCh37
NC_000008.9:g.144728364C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1489G= MANE Select	ENSP00000401508.2:p.Ala497=
ENST00000340490.7:c.1489G=	ENSP00000341136.3:p.Ala497=
ENST00000426292.7:c.1450G=	ENSP00000390949.3:p.Ala484=
ENST00000435154.7:c.*113G=	ENSP00000405670.3:n.*113G=
ENST00000449291.6:c.1489G=	ENSP00000401508.2:p.Ala497=
ENST00000460623.5:c.428G=
ENST00000464332.5:n.1033G=
ENST00000498076.5:n.268G=
ENST00000529179.1:n.273G=
NM_001286829.1:c.1450G=	NP_001273758.1:p.Ala484=
NM_145201.5:c.1489G=	NP_660202.3:p.Ala497=
XM_011517377.1:c.1292-151G=	XP_011515679.1:n.1292-151G=
NM_001363145.1:c.1408G=	NP_001350074.1:p.Ala470=
NM_001363146.1:c.805G=	NP_001350075.1:p.Ala269=
XM_017013975.2:c.1708G=	XP_016869464.1:p.Ala570=
XM_017013976.2:c.1708G=	XP_016869465.1:p.Ala570=
XM_017013977.2:c.1408G=	XP_016869466.1:p.Ala470=
XM_017013978.2:c.1511-151G=	XP_016869467.1:n.1511-151G=
XM_017013979.2:c.805G=	XP_016869468.1:p.Ala269=
XM_024447332.1:c.929-151G=	XP_024303100.1:n.929-151G=
XM_024447333.1:c.724G=	XP_024303101.1:p.Ala242=
NM_145201.6:c.1489G= MANE Select	NP_660202.3:p.Ala497=
NM_001286829.2:c.1450G=	NP_001273758.1:p.Ala484=