Canonical Allele Identifier: CA2688942841

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143574907-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574907G>A , CM000670.2:g.143574907G>A	GRCh38
NC_000008.10:g.144657077G>A , CM000670.1:g.144657077G>A	GRCh37
NC_000008.9:g.144728220G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1555-7C>T MANE Select	ENSP00000401508.2:n.1555-7C>T
ENST00000340490.7:c.1633C>T	ENSP00000341136.3:p.Pro545Ser
ENST00000426292.7:c.1516-7C>T	ENSP00000390949.3:n.1516-7C>T
ENST00000435154.7:c.*257C>T	ENSP00000405670.3:n.*257C>T
ENST00000449291.6:c.1555-7C>T	ENSP00000401508.2:n.1555-7C>T
ENST00000460623.5:c.572C>T
ENST00000464332.5:n.1099-7C>T
ENST00000498076.5:n.334-7C>T
ENST00000529179.1:n.339-7C>T
NM_001286829.1:c.1516-7C>T	NP_001273758.1:n.1516-7C>T
NM_145201.5:c.1555-7C>T	NP_660202.3:n.1555-7C>T
XM_011517377.1:c.1292-7C>T	XP_011515679.1:n.1292-7C>T
NM_001363145.1:c.1474-7C>T	NP_001350074.1:n.1474-7C>T
NM_001363146.1:c.871-7C>T	NP_001350075.1:n.871-7C>T
XM_017013975.2:c.1852C>T	XP_016869464.1:p.Pro618Ser
XM_017013976.2:c.1774-7C>T	XP_016869465.1:n.1774-7C>T
XM_017013977.2:c.1552C>T	XP_016869466.1:p.Pro518Ser
XM_017013978.2:c.1511-7C>T	XP_016869467.1:n.1511-7C>T
XM_017013979.2:c.949C>T	XP_016869468.1:p.Pro317Ser
XM_024447332.1:c.929-7C>T	XP_024303100.1:n.929-7C>T
XM_024447333.1:c.868C>T	XP_024303101.1:p.Pro290Ser
NM_145201.6:c.1555-7C>T MANE Select	NP_660202.3:n.1555-7C>T
NM_001286829.2:c.1516-7C>T	NP_001273758.1:n.1516-7C>T