Canonical Allele Identifier: CA372448737

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657160T>A (hg19) ; chr8:g.143574990T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574990T>A , CM000670.2:g.143574990T>A	GRCh38
NC_000008.10:g.144657160T>A , CM000670.1:g.144657160T>A	GRCh37
NC_000008.9:g.144728303T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1550A>T MANE Select	ENSP00000401508.2:p.Tyr517Phe
ENST00000340490.7:c.1550A>T	ENSP00000341136.3:p.Tyr517Phe
ENST00000426292.7:c.1511A>T	ENSP00000390949.3:p.Tyr504Phe
ENST00000435154.7:c.*174A>T	ENSP00000405670.3:n.*174A>T
ENST00000449291.6:c.1550A>T	ENSP00000401508.2:p.Tyr517Phe
ENST00000460623.5:c.489A>T
ENST00000464332.5:n.1094A>T
ENST00000498076.5:n.329A>T
ENST00000529179.1:n.334A>T
NM_001286829.1:c.1511A>T	NP_001273758.1:p.Tyr504Phe
NM_145201.5:c.1550A>T	NP_660202.3:p.Tyr517Phe
XM_011517377.1:c.1292-90A>T	XP_011515679.1:n.1292-90A>T
NM_001363145.1:c.1469A>T	NP_001350074.1:p.Tyr490Phe
NM_001363146.1:c.866A>T	NP_001350075.1:p.Tyr289Phe
XM_017013975.2:c.1769A>T	XP_016869464.1:p.Tyr590Phe
XM_017013976.2:c.1769A>T	XP_016869465.1:p.Tyr590Phe
XM_017013977.2:c.1469A>T	XP_016869466.1:p.Tyr490Phe
XM_017013978.2:c.1511-90A>T	XP_016869467.1:n.1511-90A>T
XM_017013979.2:c.866A>T	XP_016869468.1:p.Tyr289Phe
XM_024447332.1:c.929-90A>T	XP_024303100.1:n.929-90A>T
XM_024447333.1:c.785A>T	XP_024303101.1:p.Tyr262Phe
NM_145201.6:c.1550A>T MANE Select	NP_660202.3:p.Tyr517Phe
NM_001286829.2:c.1511A>T	NP_001273758.1:p.Tyr504Phe