Canonical Allele Identifier: CA2739973694

Gene: NAPRT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574961A>G , CM000670.2:g.143574961A>G	GRCh38
NC_000008.10:g.144657131A>G , CM000670.1:g.144657131A>G	GRCh37
NC_000008.9:g.144728274A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1554+25T>C MANE Select	ENSP00000401508.2:n.1554+25T>C
ENST00000340490.7:c.1579T>C	ENSP00000341136.3:p.Phe527Leu
ENST00000426292.7:c.1515+25T>C	ENSP00000390949.3:n.1515+25T>C
ENST00000435154.7:c.*203T>C	ENSP00000405670.3:n.*203T>C
ENST00000449291.6:c.1554+25T>C	ENSP00000401508.2:n.1554+25T>C
ENST00000460623.5:c.518T>C
ENST00000464332.5:n.1098+25T>C
ENST00000498076.5:n.333+25T>C
ENST00000529179.1:n.338+25T>C
NM_001286829.1:c.1515+25T>C	NP_001273758.1:n.1515+25T>C
NM_145201.5:c.1554+25T>C	NP_660202.3:n.1554+25T>C
XM_011517377.1:c.1292-61T>C	XP_011515679.1:n.1292-61T>C
NM_001363145.1:c.1473+25T>C	NP_001350074.1:n.1473+25T>C
NM_001363146.1:c.870+25T>C	NP_001350075.1:n.870+25T>C
XM_017013975.2:c.1798T>C	XP_016869464.1:p.Phe600Leu
XM_017013976.2:c.1773+25T>C	XP_016869465.1:n.1773+25T>C
XM_017013977.2:c.1498T>C	XP_016869466.1:p.Phe500Leu
XM_017013978.2:c.1511-61T>C	XP_016869467.1:n.1511-61T>C
XM_017013979.2:c.895T>C	XP_016869468.1:p.Phe299Leu
XM_024447332.1:c.929-61T>C	XP_024303100.1:n.929-61T>C
XM_024447333.1:c.814T>C	XP_024303101.1:p.Phe272Leu
NM_145201.6:c.1554+25T>C MANE Select	NP_660202.3:n.1554+25T>C
NM_001286829.2:c.1515+25T>C	NP_001273758.1:n.1515+25T>C