Canonical Allele Identifier: CA372448593

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657056C>A (hg19) ; chr8:g.143574886C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574886C>A , CM000670.2:g.143574886C>A	GRCh38
NC_000008.10:g.144657056C>A , CM000670.1:g.144657056C>A	GRCh37
NC_000008.9:g.144728199C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1569G>T MANE Select	ENSP00000401508.2:p.Glu523Asp
ENST00000340490.7:c.1654G>T	ENSP00000341136.3:p.Glu552Ter
ENST00000426292.7:c.1530G>T	ENSP00000390949.3:p.Glu510Asp
ENST00000435154.7:c.*278G>T	ENSP00000405670.3:n.*278G>T
ENST00000449291.6:c.1569G>T	ENSP00000401508.2:p.Glu523Asp
ENST00000460623.5:c.593G>T
ENST00000464332.5:n.1113G>T
ENST00000498076.5:n.348G>T
ENST00000529179.1:n.353G>T
NM_001286829.1:c.1530G>T	NP_001273758.1:p.Glu510Asp
NM_145201.5:c.1569G>T	NP_660202.3:p.Glu523Asp
XM_011517377.1:c.1306G>T	XP_011515679.1:p.Glu436Ter
NM_001363145.1:c.1488G>T	NP_001350074.1:p.Glu496Asp
NM_001363146.1:c.885G>T	NP_001350075.1:p.Glu295Asp
XM_017013975.2:c.1873G>T	XP_016869464.1:p.Glu625Ter
XM_017013976.2:c.1788G>T	XP_016869465.1:p.Glu596Asp
XM_017013977.2:c.1573G>T	XP_016869466.1:p.Glu525Ter
XM_017013978.2:c.1525G>T	XP_016869467.1:p.Glu509Ter
XM_017013979.2:c.970G>T	XP_016869468.1:p.Glu324Ter
XM_024447332.1:c.943G>T	XP_024303100.1:p.Glu315Ter
XM_024447333.1:c.889G>T	XP_024303101.1:p.Glu297Ter
NM_145201.6:c.1569G>T MANE Select	NP_660202.3:p.Glu523Asp
NM_001286829.2:c.1530G>T	NP_001273758.1:p.Glu510Asp