Canonical Allele Identifier: CA372448488

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143574864-T-C
• MyVariant Identifiers: chr8:g.144657034T>C (hg19) ; chr8:g.143574864T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1591A>G MANE Select	ENSP00000401508.2:p.Ser531Gly
ENST00000340490.7:c.1676A>G	ENSP00000341136.3:p.Gln559Arg
ENST00000426292.7:c.1552A>G	ENSP00000390949.3:p.Ser518Gly
ENST00000435154.7:c.*300A>G	ENSP00000405670.3:n.*300A>G
ENST00000449291.6:c.1591A>G	ENSP00000401508.2:p.Ser531Gly
ENST00000460623.5:c.615A>G
ENST00000464332.5:n.1135A>G
ENST00000498076.5:n.370A>G
ENST00000529179.1:n.375A>G
NM_001286829.1:c.1552A>G	NP_001273758.1:p.Ser518Gly
NM_145201.5:c.1591A>G	NP_660202.3:p.Ser531Gly
XM_011517377.1:c.1328A>G	XP_011515679.1:p.Gln443Arg
NM_001363145.1:c.1510A>G	NP_001350074.1:p.Ser504Gly
NM_001363146.1:c.907A>G	NP_001350075.1:p.Ser303Gly
XM_017013975.2:c.1895A>G	XP_016869464.1:p.Gln632Arg
XM_017013976.2:c.1810A>G	XP_016869465.1:p.Ser604Gly
XM_017013977.2:c.1595A>G	XP_016869466.1:p.Gln532Arg
XM_017013978.2:c.1547A>G	XP_016869467.1:p.Gln516Arg
XM_017013979.2:c.992A>G	XP_016869468.1:p.Gln331Arg
XM_024447332.1:c.965A>G	XP_024303100.1:p.Gln322Arg
XM_024447333.1:c.911A>G	XP_024303101.1:p.Gln304Arg
NM_145201.6:c.1591A>G MANE Select	NP_660202.3:p.Ser531Gly
NM_001286829.2:c.1552A>G	NP_001273758.1:p.Ser518Gly