Canonical Allele Identifier: CA2688942854

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143574918-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574918C>T , CM000670.2:g.143574918C>T	GRCh38
NC_000008.10:g.144657088C>T , CM000670.1:g.144657088C>T	GRCh37
NC_000008.9:g.144728231C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1555-18G>A MANE Select	ENSP00000401508.2:n.1555-18G>A
ENST00000340490.7:c.1622G>A	ENSP00000341136.3:p.Cys541Tyr
ENST00000426292.7:c.1516-18G>A	ENSP00000390949.3:n.1516-18G>A
ENST00000435154.7:c.*246G>A	ENSP00000405670.3:n.*246G>A
ENST00000449291.6:c.1555-18G>A	ENSP00000401508.2:n.1555-18G>A
ENST00000460623.5:c.561G>A
ENST00000464332.5:n.1099-18G>A
ENST00000498076.5:n.334-18G>A
ENST00000529179.1:n.339-18G>A
NM_001286829.1:c.1516-18G>A	NP_001273758.1:n.1516-18G>A
NM_145201.5:c.1555-18G>A	NP_660202.3:n.1555-18G>A
XM_011517377.1:c.1292-18G>A	XP_011515679.1:n.1292-18G>A
NM_001363145.1:c.1474-18G>A	NP_001350074.1:n.1474-18G>A
NM_001363146.1:c.871-18G>A	NP_001350075.1:n.871-18G>A
XM_017013975.2:c.1841G>A	XP_016869464.1:p.Cys614Tyr
XM_017013976.2:c.1774-18G>A	XP_016869465.1:n.1774-18G>A
XM_017013977.2:c.1541G>A	XP_016869466.1:p.Cys514Tyr
XM_017013978.2:c.1511-18G>A	XP_016869467.1:n.1511-18G>A
XM_017013979.2:c.938G>A	XP_016869468.1:p.Cys313Tyr
XM_024447332.1:c.929-18G>A	XP_024303100.1:n.929-18G>A
XM_024447333.1:c.857G>A	XP_024303101.1:p.Cys286Tyr
NM_145201.6:c.1555-18G>A MANE Select	NP_660202.3:n.1555-18G>A
NM_001286829.2:c.1516-18G>A	NP_001273758.1:n.1516-18G>A