Canonical Allele Identifier: CA2739973679

Gene: NAPRT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574952C>A , CM000670.2:g.143574952C>A	GRCh38
NC_000008.10:g.144657122C>A , CM000670.1:g.144657122C>A	GRCh37
NC_000008.9:g.144728265C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1554+34G>T MANE Select	ENSP00000401508.2:n.1554+34G>T
ENST00000340490.7:c.1588G>T	ENSP00000341136.3:p.Val530Leu
ENST00000426292.7:c.1515+34G>T	ENSP00000390949.3:n.1515+34G>T
ENST00000435154.7:c.*212G>T	ENSP00000405670.3:n.*212G>T
ENST00000449291.6:c.1554+34G>T	ENSP00000401508.2:n.1554+34G>T
ENST00000460623.5:c.527G>T
ENST00000464332.5:n.1098+34G>T
ENST00000498076.5:n.333+34G>T
ENST00000529179.1:n.338+34G>T
NM_001286829.1:c.1515+34G>T	NP_001273758.1:n.1515+34G>T
NM_145201.5:c.1554+34G>T	NP_660202.3:n.1554+34G>T
XM_011517377.1:c.1292-52G>T	XP_011515679.1:n.1292-52G>T
NM_001363145.1:c.1473+34G>T	NP_001350074.1:n.1473+34G>T
NM_001363146.1:c.870+34G>T	NP_001350075.1:n.870+34G>T
XM_017013975.2:c.1807G>T	XP_016869464.1:p.Val603Leu
XM_017013976.2:c.1773+34G>T	XP_016869465.1:n.1773+34G>T
XM_017013977.2:c.1507G>T	XP_016869466.1:p.Val503Leu
XM_017013978.2:c.1511-52G>T	XP_016869467.1:n.1511-52G>T
XM_017013979.2:c.904G>T	XP_016869468.1:p.Val302Leu
XM_024447332.1:c.929-52G>T	XP_024303100.1:n.929-52G>T
XM_024447333.1:c.823G>T	XP_024303101.1:p.Val275Leu
NM_145201.6:c.1554+34G>T MANE Select	NP_660202.3:n.1554+34G>T
NM_001286829.2:c.1515+34G>T	NP_001273758.1:n.1515+34G>T