Canonical Allele Identifier: CA1825861244

Gene: NAPRT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575088A= , CM000670.2:g.143575088A=	GRCh38
NC_000008.10:g.144657258A= , CM000670.1:g.144657258A=	GRCh37
NC_000008.9:g.144728401A=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1452T= MANE Select	ENSP00000401508.2:p.Cys484=
ENST00000340490.7:c.1452T=	ENSP00000341136.3:p.Cys484=
ENST00000426292.7:c.1413T=	ENSP00000390949.3:p.Cys471=
ENST00000435154.7:c.*76T=	ENSP00000405670.3:n.*76T=
ENST00000449291.6:c.1452T=	ENSP00000401508.2:p.Cys484=
ENST00000460623.5:c.391T=
ENST00000464332.5:n.996T=
ENST00000498076.5:n.231T=
ENST00000529179.1:n.236T=
NM_001286829.1:c.1413T=	NP_001273758.1:p.Cys471=
NM_145201.5:c.1452T=	NP_660202.3:p.Cys484=
XM_011517377.1:c.1292-188T=	XP_011515679.1:n.1292-188T=
NM_001363145.1:c.1371T=	NP_001350074.1:p.Cys457=
NM_001363146.1:c.768T=	NP_001350075.1:p.Cys256=
XM_017013975.2:c.1671T=	XP_016869464.1:p.Cys557=
XM_017013976.2:c.1671T=	XP_016869465.1:p.Cys557=
XM_017013977.2:c.1371T=	XP_016869466.1:p.Cys457=
XM_017013978.2:c.1511-188T=	XP_016869467.1:n.1511-188T=
XM_017013979.2:c.768T=	XP_016869468.1:p.Cys256=
XM_024447332.1:c.929-188T=	XP_024303100.1:n.929-188T=
XM_024447333.1:c.687T=	XP_024303101.1:p.Cys229=
NM_145201.6:c.1452T= MANE Select	NP_660202.3:p.Cys484=
NM_001286829.2:c.1413T=	NP_001273758.1:p.Cys471=