Canonical Allele Identifier: CA2688942904

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143574943-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574943G>T , CM000670.2:g.143574943G>T	GRCh38
NC_000008.10:g.144657113G>T , CM000670.1:g.144657113G>T	GRCh37
NC_000008.9:g.144728256G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1555-43C>A MANE Select	ENSP00000401508.2:n.1555-43C>A
ENST00000340490.7:c.1597C>A	ENSP00000341136.3:p.Arg533Ser
ENST00000426292.7:c.1516-43C>A	ENSP00000390949.3:n.1516-43C>A
ENST00000435154.7:c.*221C>A	ENSP00000405670.3:n.*221C>A
ENST00000449291.6:c.1555-43C>A	ENSP00000401508.2:n.1555-43C>A
ENST00000460623.5:c.536C>A
ENST00000464332.5:n.1099-43C>A
ENST00000498076.5:n.334-43C>A
ENST00000529179.1:n.339-43C>A
NM_001286829.1:c.1516-43C>A	NP_001273758.1:n.1516-43C>A
NM_145201.5:c.1555-43C>A	NP_660202.3:n.1555-43C>A
XM_011517377.1:c.1292-43C>A	XP_011515679.1:n.1292-43C>A
NM_001363145.1:c.1474-43C>A	NP_001350074.1:n.1474-43C>A
NM_001363146.1:c.871-43C>A	NP_001350075.1:n.871-43C>A
XM_017013975.2:c.1816C>A	XP_016869464.1:p.Arg606Ser
XM_017013976.2:c.1774-43C>A	XP_016869465.1:n.1774-43C>A
XM_017013977.2:c.1516C>A	XP_016869466.1:p.Arg506Ser
XM_017013978.2:c.1511-43C>A	XP_016869467.1:n.1511-43C>A
XM_017013979.2:c.913C>A	XP_016869468.1:p.Arg305Ser
XM_024447332.1:c.929-43C>A	XP_024303100.1:n.929-43C>A
XM_024447333.1:c.832C>A	XP_024303101.1:p.Arg278Ser
NM_145201.6:c.1555-43C>A MANE Select	NP_660202.3:n.1555-43C>A
NM_001286829.2:c.1516-43C>A	NP_001273758.1:n.1516-43C>A