Canonical Allele Identifier: CA1825861175

Gene: NAPRT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574976T= , CM000670.2:g.143574976T=	GRCh38
NC_000008.10:g.144657146T= , CM000670.1:g.144657146T=	GRCh37
NC_000008.9:g.144728289T=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1554+10A= MANE Select	ENSP00000401508.2:n.1554+10A=
ENST00000340490.7:c.1564A=	ENSP00000341136.3:p.Arg522=
ENST00000426292.7:c.1515+10A=	ENSP00000390949.3:n.1515+10A=
ENST00000435154.7:c.*188A=	ENSP00000405670.3:n.*188A=
ENST00000449291.6:c.1554+10A=	ENSP00000401508.2:n.1554+10A=
ENST00000460623.5:c.503A=
ENST00000464332.5:n.1098+10A=
ENST00000498076.5:n.333+10A=
ENST00000529179.1:n.338+10A=
NM_001286829.1:c.1515+10A=	NP_001273758.1:n.1515+10A=
NM_145201.5:c.1554+10A=	NP_660202.3:n.1554+10A=
XM_011517377.1:c.1292-76A=	XP_011515679.1:n.1292-76A=
NM_001363145.1:c.1473+10A=	NP_001350074.1:n.1473+10A=
NM_001363146.1:c.870+10A=	NP_001350075.1:n.870+10A=
XM_017013975.2:c.1783A=	XP_016869464.1:p.Arg595=
XM_017013976.2:c.1773+10A=	XP_016869465.1:n.1773+10A=
XM_017013977.2:c.1483A=	XP_016869466.1:p.Arg495=
XM_017013978.2:c.1511-76A=	XP_016869467.1:n.1511-76A=
XM_017013979.2:c.880A=	XP_016869468.1:p.Arg294=
XM_024447332.1:c.929-76A=	XP_024303100.1:n.929-76A=
XM_024447333.1:c.799A=	XP_024303101.1:p.Arg267=
NM_145201.6:c.1554+10A= MANE Select	NP_660202.3:n.1554+10A=
NM_001286829.2:c.1515+10A=	NP_001273758.1:n.1515+10A=