Canonical Allele Identifier: CA2739973615

Gene: NAPRT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574909A>C , CM000670.2:g.143574909A>C	GRCh38
NC_000008.10:g.144657079A>C , CM000670.1:g.144657079A>C	GRCh37
NC_000008.9:g.144728222A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1555-9T>G MANE Select	ENSP00000401508.2:n.1555-9T>G
ENST00000340490.7:c.1631T>G	ENSP00000341136.3:p.Leu544Arg
ENST00000426292.7:c.1516-9T>G	ENSP00000390949.3:n.1516-9T>G
ENST00000435154.7:c.*255T>G	ENSP00000405670.3:n.*255T>G
ENST00000449291.6:c.1555-9T>G	ENSP00000401508.2:n.1555-9T>G
ENST00000460623.5:c.570T>G
ENST00000464332.5:n.1099-9T>G
ENST00000498076.5:n.334-9T>G
ENST00000529179.1:n.339-9T>G
NM_001286829.1:c.1516-9T>G	NP_001273758.1:n.1516-9T>G
NM_145201.5:c.1555-9T>G	NP_660202.3:n.1555-9T>G
XM_011517377.1:c.1292-9T>G	XP_011515679.1:n.1292-9T>G
NM_001363145.1:c.1474-9T>G	NP_001350074.1:n.1474-9T>G
NM_001363146.1:c.871-9T>G	NP_001350075.1:n.871-9T>G
XM_017013975.2:c.1850T>G	XP_016869464.1:p.Leu617Arg
XM_017013976.2:c.1774-9T>G	XP_016869465.1:n.1774-9T>G
XM_017013977.2:c.1550T>G	XP_016869466.1:p.Leu517Arg
XM_017013978.2:c.1511-9T>G	XP_016869467.1:n.1511-9T>G
XM_017013979.2:c.947T>G	XP_016869468.1:p.Leu316Arg
XM_024447332.1:c.929-9T>G	XP_024303100.1:n.929-9T>G
XM_024447333.1:c.866T>G	XP_024303101.1:p.Leu289Arg
NM_145201.6:c.1555-9T>G MANE Select	NP_660202.3:n.1555-9T>G
NM_001286829.2:c.1516-9T>G	NP_001273758.1:n.1516-9T>G