Canonical Allele Identifier: CA372449112

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657228T>G (hg19) ; chr8:g.143575058T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575058T>G , CM000670.2:g.143575058T>G	GRCh38
NC_000008.10:g.144657228T>G , CM000670.1:g.144657228T>G	GRCh37
NC_000008.9:g.144728371T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1482A>C MANE Select	ENSP00000401508.2:p.Arg494Ser
ENST00000340490.7:c.1482A>C	ENSP00000341136.3:p.Arg494Ser
ENST00000426292.7:c.1443A>C	ENSP00000390949.3:p.Arg481Ser
ENST00000435154.7:c.*106A>C	ENSP00000405670.3:n.*106A>C
ENST00000449291.6:c.1482A>C	ENSP00000401508.2:p.Arg494Ser
ENST00000460623.5:c.421A>C
ENST00000464332.5:n.1026A>C
ENST00000498076.5:n.261A>C
ENST00000529179.1:n.266A>C
NM_001286829.1:c.1443A>C	NP_001273758.1:p.Arg481Ser
NM_145201.5:c.1482A>C	NP_660202.3:p.Arg494Ser
XM_011517377.1:c.1292-158A>C	XP_011515679.1:n.1292-158A>C
NM_001363145.1:c.1401A>C	NP_001350074.1:p.Arg467Ser
NM_001363146.1:c.798A>C	NP_001350075.1:p.Arg266Ser
XM_017013975.2:c.1701A>C	XP_016869464.1:p.Arg567Ser
XM_017013976.2:c.1701A>C	XP_016869465.1:p.Arg567Ser
XM_017013977.2:c.1401A>C	XP_016869466.1:p.Arg467Ser
XM_017013978.2:c.1511-158A>C	XP_016869467.1:n.1511-158A>C
XM_017013979.2:c.798A>C	XP_016869468.1:p.Arg266Ser
XM_024447332.1:c.929-158A>C	XP_024303100.1:n.929-158A>C
XM_024447333.1:c.717A>C	XP_024303101.1:p.Arg239Ser
NM_145201.6:c.1482A>C MANE Select	NP_660202.3:p.Arg494Ser
NM_001286829.2:c.1443A>C	NP_001273758.1:p.Arg481Ser