Canonical Allele Identifier: CA372448509

Gene: NAPRT

Linked Data

• ClinVar Variation Id: 3175314
• ClinVar RCV Id: RCV004466643
• gnomAD v4: 8-143574869-A-G
• MyVariant Identifiers: chr8:g.144657039A>G (hg19) ; chr8:g.143574869A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574869A>G , CM000670.2:g.143574869A>G	GRCh38
NC_000008.10:g.144657039A>G , CM000670.1:g.144657039A>G	GRCh37
NC_000008.9:g.144728182A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1586T>C MANE Select	ENSP00000401508.2:p.Val529Ala
ENST00000340490.7:c.1671T>C	ENSP00000341136.3:p.Gly557=
ENST00000426292.7:c.1547T>C	ENSP00000390949.3:p.Val516Ala
ENST00000435154.7:c.*295T>C	ENSP00000405670.3:n.*295T>C
ENST00000449291.6:c.1586T>C	ENSP00000401508.2:p.Val529Ala
ENST00000460623.5:c.610T>C
ENST00000464332.5:n.1130T>C
ENST00000498076.5:n.365T>C
ENST00000529179.1:n.370T>C
NM_001286829.1:c.1547T>C	NP_001273758.1:p.Val516Ala
NM_145201.5:c.1586T>C	NP_660202.3:p.Val529Ala
XM_011517377.1:c.1323T>C	XP_011515679.1:p.Gly441=
NM_001363145.1:c.1505T>C	NP_001350074.1:p.Val502Ala
NM_001363146.1:c.902T>C	NP_001350075.1:p.Val301Ala
XM_017013975.2:c.1890T>C	XP_016869464.1:p.Gly630=
XM_017013976.2:c.1805T>C	XP_016869465.1:p.Val602Ala
XM_017013977.2:c.1590T>C	XP_016869466.1:p.Gly530=
XM_017013978.2:c.1542T>C	XP_016869467.1:p.Gly514=
XM_017013979.2:c.987T>C	XP_016869468.1:p.Gly329=
XM_024447332.1:c.960T>C	XP_024303100.1:p.Gly320=
XM_024447333.1:c.906T>C	XP_024303101.1:p.Gly302=
NM_145201.6:c.1586T>C MANE Select	NP_660202.3:p.Val529Ala
NM_001286829.2:c.1547T>C	NP_001273758.1:p.Val516Ala