Canonical Allele Identifier: CA372448587

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657054C>T (hg19) ; chr8:g.143574884C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574884C>T , CM000670.2:g.143574884C>T	GRCh38
NC_000008.10:g.144657054C>T , CM000670.1:g.144657054C>T	GRCh37
NC_000008.9:g.144728197C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1571G>A MANE Select	ENSP00000401508.2:p.Arg524Lys
ENST00000340490.7:c.1656G>A	ENSP00000341136.3:p.Glu552=
ENST00000426292.7:c.1532G>A	ENSP00000390949.3:p.Arg511Lys
ENST00000435154.7:c.*280G>A	ENSP00000405670.3:n.*280G>A
ENST00000449291.6:c.1571G>A	ENSP00000401508.2:p.Arg524Lys
ENST00000460623.5:c.595G>A
ENST00000464332.5:n.1115G>A
ENST00000498076.5:n.350G>A
ENST00000529179.1:n.355G>A
NM_001286829.1:c.1532G>A	NP_001273758.1:p.Arg511Lys
NM_145201.5:c.1571G>A	NP_660202.3:p.Arg524Lys
XM_011517377.1:c.1308G>A	XP_011515679.1:p.Glu436=
NM_001363145.1:c.1490G>A	NP_001350074.1:p.Arg497Lys
NM_001363146.1:c.887G>A	NP_001350075.1:p.Arg296Lys
XM_017013975.2:c.1875G>A	XP_016869464.1:p.Glu625=
XM_017013976.2:c.1790G>A	XP_016869465.1:p.Arg597Lys
XM_017013977.2:c.1575G>A	XP_016869466.1:p.Glu525=
XM_017013978.2:c.1527G>A	XP_016869467.1:p.Glu509=
XM_017013979.2:c.972G>A	XP_016869468.1:p.Glu324=
XM_024447332.1:c.945G>A	XP_024303100.1:p.Glu315=
XM_024447333.1:c.891G>A	XP_024303101.1:p.Glu297=
NM_145201.6:c.1571G>A MANE Select	NP_660202.3:p.Arg524Lys
NM_001286829.2:c.1532G>A	NP_001273758.1:p.Arg511Lys