Canonical Allele Identifier: CA2739973620

Gene: NAPRT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574912A>C , CM000670.2:g.143574912A>C	GRCh38
NC_000008.10:g.144657082A>C , CM000670.1:g.144657082A>C	GRCh37
NC_000008.9:g.144728225A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1555-12T>G MANE Select	ENSP00000401508.2:n.1555-12T>G
ENST00000340490.7:c.1628T>G	ENSP00000341136.3:p.Leu543Arg
ENST00000426292.7:c.1516-12T>G	ENSP00000390949.3:n.1516-12T>G
ENST00000435154.7:c.*252T>G	ENSP00000405670.3:n.*252T>G
ENST00000449291.6:c.1555-12T>G	ENSP00000401508.2:n.1555-12T>G
ENST00000460623.5:c.567T>G
ENST00000464332.5:n.1099-12T>G
ENST00000498076.5:n.334-12T>G
ENST00000529179.1:n.339-12T>G
NM_001286829.1:c.1516-12T>G	NP_001273758.1:n.1516-12T>G
NM_145201.5:c.1555-12T>G	NP_660202.3:n.1555-12T>G
XM_011517377.1:c.1292-12T>G	XP_011515679.1:n.1292-12T>G
NM_001363145.1:c.1474-12T>G	NP_001350074.1:n.1474-12T>G
NM_001363146.1:c.871-12T>G	NP_001350075.1:n.871-12T>G
XM_017013975.2:c.1847T>G	XP_016869464.1:p.Leu616Arg
XM_017013976.2:c.1774-12T>G	XP_016869465.1:n.1774-12T>G
XM_017013977.2:c.1547T>G	XP_016869466.1:p.Leu516Arg
XM_017013978.2:c.1511-12T>G	XP_016869467.1:n.1511-12T>G
XM_017013979.2:c.944T>G	XP_016869468.1:p.Leu315Arg
XM_024447332.1:c.929-12T>G	XP_024303100.1:n.929-12T>G
XM_024447333.1:c.863T>G	XP_024303101.1:p.Leu288Arg
NM_145201.6:c.1555-12T>G MANE Select	NP_660202.3:n.1555-12T>G
NM_001286829.2:c.1516-12T>G	NP_001273758.1:n.1516-12T>G