Canonical Allele Identifier: CA372448601

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657057T>A (hg19) ; chr8:g.143574887T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574887T>A , CM000670.2:g.143574887T>A	GRCh38
NC_000008.10:g.144657057T>A , CM000670.1:g.144657057T>A	GRCh37
NC_000008.9:g.144728200T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1568A>T MANE Select	ENSP00000401508.2:p.Glu523Val
ENST00000340490.7:c.1653A>T	ENSP00000341136.3:p.Arg551=
ENST00000426292.7:c.1529A>T	ENSP00000390949.3:p.Glu510Val
ENST00000435154.7:c.*277A>T	ENSP00000405670.3:n.*277A>T
ENST00000449291.6:c.1568A>T	ENSP00000401508.2:p.Glu523Val
ENST00000460623.5:c.592A>T
ENST00000464332.5:n.1112A>T
ENST00000498076.5:n.347A>T
ENST00000529179.1:n.352A>T
NM_001286829.1:c.1529A>T	NP_001273758.1:p.Glu510Val
NM_145201.5:c.1568A>T	NP_660202.3:p.Glu523Val
XM_011517377.1:c.1305A>T	XP_011515679.1:p.Arg435=
NM_001363145.1:c.1487A>T	NP_001350074.1:p.Glu496Val
NM_001363146.1:c.884A>T	NP_001350075.1:p.Glu295Val
XM_017013975.2:c.1872A>T	XP_016869464.1:p.Arg624=
XM_017013976.2:c.1787A>T	XP_016869465.1:p.Glu596Val
XM_017013977.2:c.1572A>T	XP_016869466.1:p.Arg524=
XM_017013978.2:c.1524A>T	XP_016869467.1:p.Arg508=
XM_017013979.2:c.969A>T	XP_016869468.1:p.Arg323=
XM_024447332.1:c.942A>T	XP_024303100.1:p.Arg314=
XM_024447333.1:c.888A>T	XP_024303101.1:p.Arg296=
NM_145201.6:c.1568A>T MANE Select	NP_660202.3:p.Glu523Val
NM_001286829.2:c.1529A>T	NP_001273758.1:p.Glu510Val