Canonical Allele Identifier: CA1825861123

Gene: NAPRT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574900C= , CM000670.2:g.143574900C=	GRCh38
NC_000008.10:g.144657070C= , CM000670.1:g.144657070C=	GRCh37
NC_000008.9:g.144728213C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1555G= MANE Select	ENSP00000401508.2:p.Val519=
ENST00000340490.7:c.1640G=	ENSP00000341136.3:p.Gly547=
ENST00000426292.7:c.1516G=	ENSP00000390949.3:p.Val506=
ENST00000435154.7:c.*264G=	ENSP00000405670.3:n.*264G=
ENST00000449291.6:c.1555G=	ENSP00000401508.2:p.Val519=
ENST00000460623.5:c.579G=
ENST00000464332.5:n.1099G=
ENST00000498076.5:n.334G=
ENST00000529179.1:n.339G=
NM_001286829.1:c.1516G=	NP_001273758.1:p.Val506=
NM_145201.5:c.1555G=	NP_660202.3:p.Val519=
XM_011517377.1:c.1292G=	XP_011515679.1:p.Gly431=
NM_001363145.1:c.1474G=	NP_001350074.1:p.Val492=
NM_001363146.1:c.871G=	NP_001350075.1:p.Val291=
XM_017013975.2:c.1859G=	XP_016869464.1:p.Gly620=
XM_017013976.2:c.1774G=	XP_016869465.1:p.Val592=
XM_017013977.2:c.1559G=	XP_016869466.1:p.Gly520=
XM_017013978.2:c.1511G=	XP_016869467.1:p.Gly504=
XM_017013979.2:c.956G=	XP_016869468.1:p.Gly319=
XM_024447332.1:c.929G=	XP_024303100.1:p.Gly310=
XM_024447333.1:c.875G=	XP_024303101.1:p.Gly292=
NM_145201.6:c.1555G= MANE Select	NP_660202.3:p.Val519=
NM_001286829.2:c.1516G=	NP_001273758.1:p.Val506=