Canonical Allele Identifier: CA372448489

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657034T>G (hg19) ; chr8:g.143574864T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574864T>G , CM000670.2:g.143574864T>G	GRCh38
NC_000008.10:g.144657034T>G , CM000670.1:g.144657034T>G	GRCh37
NC_000008.9:g.144728177T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1591A>C MANE Select	ENSP00000401508.2:p.Ser531Arg
ENST00000340490.7:c.1676A>C	ENSP00000341136.3:p.Gln559Pro
ENST00000426292.7:c.1552A>C	ENSP00000390949.3:p.Ser518Arg
ENST00000435154.7:c.*300A>C	ENSP00000405670.3:n.*300A>C
ENST00000449291.6:c.1591A>C	ENSP00000401508.2:p.Ser531Arg
ENST00000460623.5:c.615A>C
ENST00000464332.5:n.1135A>C
ENST00000498076.5:n.370A>C
ENST00000529179.1:n.375A>C
NM_001286829.1:c.1552A>C	NP_001273758.1:p.Ser518Arg
NM_145201.5:c.1591A>C	NP_660202.3:p.Ser531Arg
XM_011517377.1:c.1328A>C	XP_011515679.1:p.Gln443Pro
NM_001363145.1:c.1510A>C	NP_001350074.1:p.Ser504Arg
NM_001363146.1:c.907A>C	NP_001350075.1:p.Ser303Arg
XM_017013975.2:c.1895A>C	XP_016869464.1:p.Gln632Pro
XM_017013976.2:c.1810A>C	XP_016869465.1:p.Ser604Arg
XM_017013977.2:c.1595A>C	XP_016869466.1:p.Gln532Pro
XM_017013978.2:c.1547A>C	XP_016869467.1:p.Gln516Pro
XM_017013979.2:c.992A>C	XP_016869468.1:p.Gln331Pro
XM_024447332.1:c.965A>C	XP_024303100.1:p.Gln322Pro
XM_024447333.1:c.911A>C	XP_024303101.1:p.Gln304Pro
NM_145201.6:c.1591A>C MANE Select	NP_660202.3:p.Ser531Arg
NM_001286829.2:c.1552A>C	NP_001273758.1:p.Ser518Arg