Canonical Allele Identifier: CA372448700

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657154A>T (hg19) ; chr8:g.143574984A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574984A>T , CM000670.2:g.143574984A>T	GRCh38
NC_000008.10:g.144657154A>T , CM000670.1:g.144657154A>T	GRCh37
NC_000008.9:g.144728297A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1554+2T>A MANE Select	ENSP00000401508.2:n.1554+2T>A
ENST00000340490.7:c.1556T>A	ENSP00000341136.3:p.Val519Asp
ENST00000426292.7:c.1515+2T>A	ENSP00000390949.3:n.1515+2T>A
ENST00000435154.7:c.*180T>A	ENSP00000405670.3:n.*180T>A
ENST00000449291.6:c.1554+2T>A	ENSP00000401508.2:n.1554+2T>A
ENST00000460623.5:c.495T>A
ENST00000464332.5:n.1098+2T>A
ENST00000498076.5:n.333+2T>A
ENST00000529179.1:n.338+2T>A
NM_001286829.1:c.1515+2T>A	NP_001273758.1:n.1515+2T>A
NM_145201.5:c.1554+2T>A	NP_660202.3:n.1554+2T>A
XM_011517377.1:c.1292-84T>A	XP_011515679.1:n.1292-84T>A
NM_001363145.1:c.1473+2T>A	NP_001350074.1:n.1473+2T>A
NM_001363146.1:c.870+2T>A	NP_001350075.1:n.870+2T>A
XM_017013975.2:c.1775T>A	XP_016869464.1:p.Val592Asp
XM_017013976.2:c.1773+2T>A	XP_016869465.1:n.1773+2T>A
XM_017013977.2:c.1475T>A	XP_016869466.1:p.Val492Asp
XM_017013978.2:c.1511-84T>A	XP_016869467.1:n.1511-84T>A
XM_017013979.2:c.872T>A	XP_016869468.1:p.Val291Asp
XM_024447332.1:c.929-84T>A	XP_024303100.1:n.929-84T>A
XM_024447333.1:c.791T>A	XP_024303101.1:p.Val264Asp
NM_145201.6:c.1554+2T>A MANE Select	NP_660202.3:n.1554+2T>A
NM_001286829.2:c.1515+2T>A	NP_001273758.1:n.1515+2T>A