Canonical Allele Identifier: CA463511595

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657165T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574995T>G , CM000670.2:g.143574995T>G	GRCh38
NC_000008.10:g.144657165T>G , CM000670.1:g.144657165T>G	GRCh37
NC_000008.9:g.144728308T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1545A>C MANE Select	ENSP00000401508.2:p.Ala515=
ENST00000340490.7:c.1545A>C	ENSP00000341136.3:p.Ala515=
ENST00000426292.7:c.1506A>C	ENSP00000390949.3:p.Ala502=
ENST00000435154.7:c.*169A>C	ENSP00000405670.3:n.*169A>C
ENST00000449291.6:c.1545A>C	ENSP00000401508.2:p.Ala515=
ENST00000460623.5:c.484A>C
ENST00000464332.5:n.1089A>C
ENST00000498076.5:n.324A>C
ENST00000529179.1:n.329A>C
NM_001286829.1:c.1506A>C	NP_001273758.1:p.Ala502=
NM_145201.5:c.1545A>C	NP_660202.3:p.Ala515=
XM_011517377.1:c.1292-95A>C	XP_011515679.1:n.1292-95A>C
NM_001363145.1:c.1464A>C	NP_001350074.1:p.Ala488=
NM_001363146.1:c.861A>C	NP_001350075.1:p.Ala287=
XM_017013975.2:c.1764A>C	XP_016869464.1:p.Ala588=
XM_017013976.2:c.1764A>C	XP_016869465.1:p.Ala588=
XM_017013977.2:c.1464A>C	XP_016869466.1:p.Ala488=
XM_017013978.2:c.1511-95A>C	XP_016869467.1:n.1511-95A>C
XM_017013979.2:c.861A>C	XP_016869468.1:p.Ala287=
XM_024447332.1:c.929-95A>C	XP_024303100.1:n.929-95A>C
XM_024447333.1:c.780A>C	XP_024303101.1:p.Ala260=
NM_145201.6:c.1545A>C MANE Select	NP_660202.3:p.Ala515=
NM_001286829.2:c.1506A>C	NP_001273758.1:p.Ala502=