Canonical Allele Identifier: CA372449006

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657217T>C (hg19) ; chr8:g.143575047T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575047T>C , CM000670.2:g.143575047T>C	GRCh38
NC_000008.10:g.144657217T>C , CM000670.1:g.144657217T>C	GRCh37
NC_000008.9:g.144728360T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1493A>G MANE Select	ENSP00000401508.2:p.Gln498Arg
ENST00000340490.7:c.1493A>G	ENSP00000341136.3:p.Gln498Arg
ENST00000426292.7:c.1454A>G	ENSP00000390949.3:p.Gln485Arg
ENST00000435154.7:c.*117A>G	ENSP00000405670.3:n.*117A>G
ENST00000449291.6:c.1493A>G	ENSP00000401508.2:p.Gln498Arg
ENST00000460623.5:c.432A>G
ENST00000464332.5:n.1037A>G
ENST00000498076.5:n.272A>G
ENST00000529179.1:n.277A>G
NM_001286829.1:c.1454A>G	NP_001273758.1:p.Gln485Arg
NM_145201.5:c.1493A>G	NP_660202.3:p.Gln498Arg
XM_011517377.1:c.1292-147A>G	XP_011515679.1:n.1292-147A>G
NM_001363145.1:c.1412A>G	NP_001350074.1:p.Gln471Arg
NM_001363146.1:c.809A>G	NP_001350075.1:p.Gln270Arg
XM_017013975.2:c.1712A>G	XP_016869464.1:p.Gln571Arg
XM_017013976.2:c.1712A>G	XP_016869465.1:p.Gln571Arg
XM_017013977.2:c.1412A>G	XP_016869466.1:p.Gln471Arg
XM_017013978.2:c.1511-147A>G	XP_016869467.1:n.1511-147A>G
XM_017013979.2:c.809A>G	XP_016869468.1:p.Gln270Arg
XM_024447332.1:c.929-147A>G	XP_024303100.1:n.929-147A>G
XM_024447333.1:c.728A>G	XP_024303101.1:p.Gln243Arg
NM_145201.6:c.1493A>G MANE Select	NP_660202.3:p.Gln498Arg
NM_001286829.2:c.1454A>G	NP_001273758.1:p.Gln485Arg