Canonical Allele Identifier: CA372448591

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143574885-T-C
• MyVariant Identifiers: chr8:g.144657055T>C (hg19) ; chr8:g.143574885T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574885T>C , CM000670.2:g.143574885T>C	GRCh38
NC_000008.10:g.144657055T>C , CM000670.1:g.144657055T>C	GRCh37
NC_000008.9:g.144728198T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1570A>G MANE Select	ENSP00000401508.2:p.Arg524Gly
ENST00000340490.7:c.1655A>G	ENSP00000341136.3:p.Glu552Gly
ENST00000426292.7:c.1531A>G	ENSP00000390949.3:p.Arg511Gly
ENST00000435154.7:c.*279A>G	ENSP00000405670.3:n.*279A>G
ENST00000449291.6:c.1570A>G	ENSP00000401508.2:p.Arg524Gly
ENST00000460623.5:c.594A>G
ENST00000464332.5:n.1114A>G
ENST00000498076.5:n.349A>G
ENST00000529179.1:n.354A>G
NM_001286829.1:c.1531A>G	NP_001273758.1:p.Arg511Gly
NM_145201.5:c.1570A>G	NP_660202.3:p.Arg524Gly
XM_011517377.1:c.1307A>G	XP_011515679.1:p.Glu436Gly
NM_001363145.1:c.1489A>G	NP_001350074.1:p.Arg497Gly
NM_001363146.1:c.886A>G	NP_001350075.1:p.Arg296Gly
XM_017013975.2:c.1874A>G	XP_016869464.1:p.Glu625Gly
XM_017013976.2:c.1789A>G	XP_016869465.1:p.Arg597Gly
XM_017013977.2:c.1574A>G	XP_016869466.1:p.Glu525Gly
XM_017013978.2:c.1526A>G	XP_016869467.1:p.Glu509Gly
XM_017013979.2:c.971A>G	XP_016869468.1:p.Glu324Gly
XM_024447332.1:c.944A>G	XP_024303100.1:p.Glu315Gly
XM_024447333.1:c.890A>G	XP_024303101.1:p.Glu297Gly
NM_145201.6:c.1570A>G MANE Select	NP_660202.3:p.Arg524Gly
NM_001286829.2:c.1531A>G	NP_001273758.1:p.Arg511Gly