Canonical Allele Identifier: CA2688942961

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143574983-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574983A>C , CM000670.2:g.143574983A>C	GRCh38
NC_000008.10:g.144657153A>C , CM000670.1:g.144657153A>C	GRCh37
NC_000008.9:g.144728296A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1554+3T>G MANE Select	ENSP00000401508.2:n.1554+3T>G
ENST00000340490.7:c.1557T>G	ENSP00000341136.3:p.Val519=
ENST00000426292.7:c.1515+3T>G	ENSP00000390949.3:n.1515+3T>G
ENST00000435154.7:c.*181T>G	ENSP00000405670.3:n.*181T>G
ENST00000449291.6:c.1554+3T>G	ENSP00000401508.2:n.1554+3T>G
ENST00000460623.5:c.496T>G
ENST00000464332.5:n.1098+3T>G
ENST00000498076.5:n.333+3T>G
ENST00000529179.1:n.338+3T>G
NM_001286829.1:c.1515+3T>G	NP_001273758.1:n.1515+3T>G
NM_145201.5:c.1554+3T>G	NP_660202.3:n.1554+3T>G
XM_011517377.1:c.1292-83T>G	XP_011515679.1:n.1292-83T>G
NM_001363145.1:c.1473+3T>G	NP_001350074.1:n.1473+3T>G
NM_001363146.1:c.870+3T>G	NP_001350075.1:n.870+3T>G
XM_017013975.2:c.1776T>G	XP_016869464.1:p.Val592=
XM_017013976.2:c.1773+3T>G	XP_016869465.1:n.1773+3T>G
XM_017013977.2:c.1476T>G	XP_016869466.1:p.Val492=
XM_017013978.2:c.1511-83T>G	XP_016869467.1:n.1511-83T>G
XM_017013979.2:c.873T>G	XP_016869468.1:p.Val291=
XM_024447332.1:c.929-83T>G	XP_024303100.1:n.929-83T>G
XM_024447333.1:c.792T>G	XP_024303101.1:p.Val264=
NM_145201.6:c.1554+3T>G MANE Select	NP_660202.3:n.1554+3T>G
NM_001286829.2:c.1515+3T>G	NP_001273758.1:n.1515+3T>G