Canonical Allele Identifier: CA2739973606

Gene: NAPRT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574904C>G , CM000670.2:g.143574904C>G	GRCh38
NC_000008.10:g.144657074C>G , CM000670.1:g.144657074C>G	GRCh37
NC_000008.9:g.144728217C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1555-4G>C MANE Select	ENSP00000401508.2:n.1555-4G>C
ENST00000340490.7:c.1636G>C	ENSP00000341136.3:p.Ala546Pro
ENST00000426292.7:c.1516-4G>C	ENSP00000390949.3:n.1516-4G>C
ENST00000435154.7:c.*260G>C	ENSP00000405670.3:n.*260G>C
ENST00000449291.6:c.1555-4G>C	ENSP00000401508.2:n.1555-4G>C
ENST00000460623.5:c.575G>C
ENST00000464332.5:n.1099-4G>C
ENST00000498076.5:n.334-4G>C
ENST00000529179.1:n.339-4G>C
NM_001286829.1:c.1516-4G>C	NP_001273758.1:n.1516-4G>C
NM_145201.5:c.1555-4G>C	NP_660202.3:n.1555-4G>C
XM_011517377.1:c.1292-4G>C	XP_011515679.1:n.1292-4G>C
NM_001363145.1:c.1474-4G>C	NP_001350074.1:n.1474-4G>C
NM_001363146.1:c.871-4G>C	NP_001350075.1:n.871-4G>C
XM_017013975.2:c.1855G>C	XP_016869464.1:p.Ala619Pro
XM_017013976.2:c.1774-4G>C	XP_016869465.1:n.1774-4G>C
XM_017013977.2:c.1555G>C	XP_016869466.1:p.Ala519Pro
XM_017013978.2:c.1511-4G>C	XP_016869467.1:n.1511-4G>C
XM_017013979.2:c.952G>C	XP_016869468.1:p.Ala318Pro
XM_024447332.1:c.929-4G>C	XP_024303100.1:n.929-4G>C
XM_024447333.1:c.871G>C	XP_024303101.1:p.Ala291Pro
NM_145201.6:c.1555-4G>C MANE Select	NP_660202.3:n.1555-4G>C
NM_001286829.2:c.1516-4G>C	NP_001273758.1:n.1516-4G>C