Canonical Allele Identifier: CA372448481

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143574863-C-G
• MyVariant Identifiers: chr8:g.144657033C>G (hg19) ; chr8:g.143574863C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574863C>G , CM000670.2:g.143574863C>G	GRCh38
NC_000008.10:g.144657033C>G , CM000670.1:g.144657033C>G	GRCh37
NC_000008.9:g.144728176C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1592G>C MANE Select	ENSP00000401508.2:p.Ser531Thr
ENST00000340490.7:c.1677G>C	ENSP00000341136.3:p.Gln559His
ENST00000426292.7:c.1553G>C	ENSP00000390949.3:p.Ser518Thr
ENST00000435154.7:c.*301G>C	ENSP00000405670.3:n.*301G>C
ENST00000449291.6:c.1592G>C	ENSP00000401508.2:p.Ser531Thr
ENST00000460623.5:c.616G>C
ENST00000464332.5:n.1136G>C
ENST00000498076.5:n.371G>C
ENST00000529179.1:n.376G>C
NM_001286829.1:c.1553G>C	NP_001273758.1:p.Ser518Thr
NM_145201.5:c.1592G>C	NP_660202.3:p.Ser531Thr
XM_011517377.1:c.1329G>C	XP_011515679.1:p.Gln443His
NM_001363145.1:c.1511G>C	NP_001350074.1:p.Ser504Thr
NM_001363146.1:c.908G>C	NP_001350075.1:p.Ser303Thr
XM_017013975.2:c.1896G>C	XP_016869464.1:p.Gln632His
XM_017013976.2:c.1811G>C	XP_016869465.1:p.Ser604Thr
XM_017013977.2:c.1596G>C	XP_016869466.1:p.Gln532His
XM_017013978.2:c.1548G>C	XP_016869467.1:p.Gln516His
XM_017013979.2:c.993G>C	XP_016869468.1:p.Gln331His
XM_024447332.1:c.966G>C	XP_024303100.1:p.Gln322His
XM_024447333.1:c.912G>C	XP_024303101.1:p.Gln304His
NM_145201.6:c.1592G>C MANE Select	NP_660202.3:p.Ser531Thr
NM_001286829.2:c.1553G>C	NP_001273758.1:p.Ser518Thr