Canonical Allele Identifier: CA372448657

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657069A>T (hg19) ; chr8:g.143574899A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574899A>T , CM000670.2:g.143574899A>T	GRCh38
NC_000008.10:g.144657069A>T , CM000670.1:g.144657069A>T	GRCh37
NC_000008.9:g.144728212A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1556T>A MANE Select	ENSP00000401508.2:p.Val519Glu
ENST00000340490.7:c.1641T>A	ENSP00000341136.3:p.Gly547=
ENST00000426292.7:c.1517T>A	ENSP00000390949.3:p.Val506Glu
ENST00000435154.7:c.*265T>A	ENSP00000405670.3:n.*265T>A
ENST00000449291.6:c.1556T>A	ENSP00000401508.2:p.Val519Glu
ENST00000460623.5:c.580T>A
ENST00000464332.5:n.1100T>A
ENST00000498076.5:n.335T>A
ENST00000529179.1:n.340T>A
NM_001286829.1:c.1517T>A	NP_001273758.1:p.Val506Glu
NM_145201.5:c.1556T>A	NP_660202.3:p.Val519Glu
XM_011517377.1:c.1293T>A	XP_011515679.1:p.Gly431=
NM_001363145.1:c.1475T>A	NP_001350074.1:p.Val492Glu
NM_001363146.1:c.872T>A	NP_001350075.1:p.Val291Glu
XM_017013975.2:c.1860T>A	XP_016869464.1:p.Gly620=
XM_017013976.2:c.1775T>A	XP_016869465.1:p.Val592Glu
XM_017013977.2:c.1560T>A	XP_016869466.1:p.Gly520=
XM_017013978.2:c.1512T>A	XP_016869467.1:p.Gly504=
XM_017013979.2:c.957T>A	XP_016869468.1:p.Gly319=
XM_024447332.1:c.930T>A	XP_024303100.1:p.Gly310=
XM_024447333.1:c.876T>A	XP_024303101.1:p.Gly292=
NM_145201.6:c.1556T>A MANE Select	NP_660202.3:p.Val519Glu
NM_001286829.2:c.1517T>A	NP_001273758.1:p.Val506Glu