Canonical Allele Identifier: CA1825861174

Gene: NAPRT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574975C= , CM000670.2:g.143574975C=	GRCh38
NC_000008.10:g.144657145C= , CM000670.1:g.144657145C=	GRCh37
NC_000008.9:g.144728288C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1554+11G= MANE Select	ENSP00000401508.2:n.1554+11G=
ENST00000340490.7:c.1565G=	ENSP00000341136.3:p.Arg522=
ENST00000426292.7:c.1515+11G=	ENSP00000390949.3:n.1515+11G=
ENST00000435154.7:c.*189G=	ENSP00000405670.3:n.*189G=
ENST00000449291.6:c.1554+11G=	ENSP00000401508.2:n.1554+11G=
ENST00000460623.5:c.504G=
ENST00000464332.5:n.1098+11G=
ENST00000498076.5:n.333+11G=
ENST00000529179.1:n.338+11G=
NM_001286829.1:c.1515+11G=	NP_001273758.1:n.1515+11G=
NM_145201.5:c.1554+11G=	NP_660202.3:n.1554+11G=
XM_011517377.1:c.1292-75G=	XP_011515679.1:n.1292-75G=
NM_001363145.1:c.1473+11G=	NP_001350074.1:n.1473+11G=
NM_001363146.1:c.870+11G=	NP_001350075.1:n.870+11G=
XM_017013975.2:c.1784G=	XP_016869464.1:p.Arg595=
XM_017013976.2:c.1773+11G=	XP_016869465.1:n.1773+11G=
XM_017013977.2:c.1484G=	XP_016869466.1:p.Arg495=
XM_017013978.2:c.1511-75G=	XP_016869467.1:n.1511-75G=
XM_017013979.2:c.881G=	XP_016869468.1:p.Arg294=
XM_024447332.1:c.929-75G=	XP_024303100.1:n.929-75G=
XM_024447333.1:c.800G=	XP_024303101.1:p.Arg267=
NM_145201.6:c.1554+11G= MANE Select	NP_660202.3:n.1554+11G=
NM_001286829.2:c.1515+11G=	NP_001273758.1:n.1515+11G=