Canonical Allele Identifier: CA372448589

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657055T>A (hg19) ; chr8:g.143574885T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1570A>T MANE Select	ENSP00000401508.2:p.Arg524Trp
ENST00000340490.7:c.1655A>T	ENSP00000341136.3:p.Glu552Val
ENST00000426292.7:c.1531A>T	ENSP00000390949.3:p.Arg511Trp
ENST00000435154.7:c.*279A>T	ENSP00000405670.3:n.*279A>T
ENST00000449291.6:c.1570A>T	ENSP00000401508.2:p.Arg524Trp
ENST00000460623.5:c.594A>T
ENST00000464332.5:n.1114A>T
ENST00000498076.5:n.349A>T
ENST00000529179.1:n.354A>T
NM_001286829.1:c.1531A>T	NP_001273758.1:p.Arg511Trp
NM_145201.5:c.1570A>T	NP_660202.3:p.Arg524Trp
XM_011517377.1:c.1307A>T	XP_011515679.1:p.Glu436Val
NM_001363145.1:c.1489A>T	NP_001350074.1:p.Arg497Trp
NM_001363146.1:c.886A>T	NP_001350075.1:p.Arg296Trp
XM_017013975.2:c.1874A>T	XP_016869464.1:p.Glu625Val
XM_017013976.2:c.1789A>T	XP_016869465.1:p.Arg597Trp
XM_017013977.2:c.1574A>T	XP_016869466.1:p.Glu525Val
XM_017013978.2:c.1526A>T	XP_016869467.1:p.Glu509Val
XM_017013979.2:c.971A>T	XP_016869468.1:p.Glu324Val
XM_024447332.1:c.944A>T	XP_024303100.1:p.Glu315Val
XM_024447333.1:c.890A>T	XP_024303101.1:p.Glu297Val
NM_145201.6:c.1570A>T MANE Select	NP_660202.3:p.Arg524Trp
NM_001286829.2:c.1531A>T	NP_001273758.1:p.Arg511Trp