Canonical Allele Identifier: CA372448476

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657032A>C (hg19) ; chr8:g.143574862A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1593T>G MANE Select	ENSP00000401508.2:p.Ser531Arg
ENST00000340490.7:c.1678T>G	ENSP00000341136.3:p.Ser560Ala
ENST00000426292.7:c.1554T>G	ENSP00000390949.3:p.Ser518Arg
ENST00000435154.7:c.*302T>G	ENSP00000405670.3:n.*302T>G
ENST00000449291.6:c.1593T>G	ENSP00000401508.2:p.Ser531Arg
ENST00000460623.5:c.617T>G
ENST00000464332.5:n.1137T>G
ENST00000498076.5:n.372T>G
ENST00000529179.1:n.377T>G
NM_001286829.1:c.1554T>G	NP_001273758.1:p.Ser518Arg
NM_145201.5:c.1593T>G	NP_660202.3:p.Ser531Arg
XM_011517377.1:c.1330T>G	XP_011515679.1:p.Ser444Ala
NM_001363145.1:c.1512T>G	NP_001350074.1:p.Ser504Arg
NM_001363146.1:c.909T>G	NP_001350075.1:p.Ser303Arg
XM_017013975.2:c.1897T>G	XP_016869464.1:p.Ser633Ala
XM_017013976.2:c.1812T>G	XP_016869465.1:p.Ser604Arg
XM_017013977.2:c.1597T>G	XP_016869466.1:p.Ser533Ala
XM_017013978.2:c.1549T>G	XP_016869467.1:p.Ser517Ala
XM_017013979.2:c.994T>G	XP_016869468.1:p.Ser332Ala
XM_024447332.1:c.967T>G	XP_024303100.1:p.Ser323Ala
XM_024447333.1:c.913T>G	XP_024303101.1:p.Ser305Ala
NM_145201.6:c.1593T>G MANE Select	NP_660202.3:p.Ser531Arg
NM_001286829.2:c.1554T>G	NP_001273758.1:p.Ser518Arg