Canonical Allele Identifier: CA372450266

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657488A>T (hg19) ; chr8:g.143575318A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575318A>T , CM000670.2:g.143575318A>T	GRCh38
NC_000008.10:g.144657488A>T , CM000670.1:g.144657488A>T	GRCh37
NC_000008.9:g.144728631A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1319T>A MANE Select	ENSP00000401508.2:p.Leu440Ter
ENST00000340490.7:c.1319T>A	ENSP00000341136.3:p.Leu440Ter
ENST00000426292.7:c.1319T>A	ENSP00000390949.3:p.Leu440Ter
ENST00000435154.7:c.1319T>A	ENSP00000405670.3:p.Leu440Ter
ENST00000449291.6:c.1319T>A	ENSP00000401508.2:p.Leu440Ter
ENST00000460623.5:c.297T>A
ENST00000464332.5:n.863T>A
ENST00000498076.5:n.98T>A
ENST00000529179.1:n.6T>A
NM_001286829.1:c.1319T>A	NP_001273758.1:p.Leu440Ter
NM_145201.5:c.1319T>A	NP_660202.3:p.Leu440Ter
XM_011517377.1:c.1291+105T>A	XP_011515679.1:n.1291+105T>A
NM_001363145.1:c.1238T>A	NP_001350074.1:p.Leu413Ter
NM_001363146.1:c.635T>A	NP_001350075.1:p.Leu212Ter
XM_017013975.2:c.1538T>A	XP_016869464.1:p.Leu513Ter
XM_017013976.2:c.1538T>A	XP_016869465.1:p.Leu513Ter
XM_017013977.2:c.1238T>A	XP_016869466.1:p.Leu413Ter
XM_017013978.2:c.1510+105T>A	XP_016869467.1:n.1510+105T>A
XM_017013979.2:c.635T>A	XP_016869468.1:p.Leu212Ter
XM_024447332.1:c.928+105T>A	XP_024303100.1:n.928+105T>A
XM_024447333.1:c.554T>A	XP_024303101.1:p.Leu185Ter
NM_145201.6:c.1319T>A MANE Select	NP_660202.3:p.Leu440Ter
NM_001286829.2:c.1319T>A	NP_001273758.1:p.Leu440Ter