Canonical Allele Identifier: CA187546575

Gene: NAPRT

Linked Data

• dbSNP Id: rs1016509171
• MyVariant Identifiers: chr8:g.144657032A>T (hg19) ; chr8:g.143574862A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574862A>T , CM000670.2:g.143574862A>T	GRCh38
NC_000008.10:g.144657032A>T , CM000670.1:g.144657032A>T	GRCh37
NC_000008.9:g.144728175A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1593T>A MANE Select	ENSP00000401508.2:p.Ser531Arg
ENST00000340490.7:c.1678T>A	ENSP00000341136.3:p.Ser560Thr
ENST00000426292.7:c.1554T>A	ENSP00000390949.3:p.Ser518Arg
ENST00000435154.7:c.*302T>A	ENSP00000405670.3:n.*302T>A
ENST00000449291.6:c.1593T>A	ENSP00000401508.2:p.Ser531Arg
ENST00000460623.5:c.617T>A
ENST00000464332.5:n.1137T>A
ENST00000498076.5:n.372T>A
ENST00000529179.1:n.377T>A
NM_001286829.1:c.1554T>A	NP_001273758.1:p.Ser518Arg
NM_145201.5:c.1593T>A	NP_660202.3:p.Ser531Arg
XM_011517377.1:c.1330T>A	XP_011515679.1:p.Ser444Thr
NM_001363145.1:c.1512T>A	NP_001350074.1:p.Ser504Arg
NM_001363146.1:c.909T>A	NP_001350075.1:p.Ser303Arg
XM_017013975.2:c.1897T>A	XP_016869464.1:p.Ser633Thr
XM_017013976.2:c.1812T>A	XP_016869465.1:p.Ser604Arg
XM_017013977.2:c.1597T>A	XP_016869466.1:p.Ser533Thr
XM_017013978.2:c.1549T>A	XP_016869467.1:p.Ser517Thr
XM_017013979.2:c.994T>A	XP_016869468.1:p.Ser332Thr
XM_024447332.1:c.967T>A	XP_024303100.1:p.Ser323Thr
XM_024447333.1:c.913T>A	XP_024303101.1:p.Ser305Thr
NM_145201.6:c.1593T>A MANE Select	NP_660202.3:p.Ser531Arg
NM_001286829.2:c.1554T>A	NP_001273758.1:p.Ser518Arg