Canonical Allele Identifier: CA372448805

Gene: NAPRT

Linked Data

• dbSNP Id: rs1563928903
• gnomAD v4: 8-143575003-T-A
• MyVariant Identifiers: chr8:g.144657173T>A (hg19) ; chr8:g.143575003T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575003T>A , CM000670.2:g.143575003T>A	GRCh38
NC_000008.10:g.144657173T>A , CM000670.1:g.144657173T>A	GRCh37
NC_000008.9:g.144728316T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1537A>T MANE Select	ENSP00000401508.2:p.Ser513Cys
ENST00000340490.7:c.1537A>T	ENSP00000341136.3:p.Ser513Cys
ENST00000426292.7:c.1498A>T	ENSP00000390949.3:p.Ser500Cys
ENST00000435154.7:c.*161A>T	ENSP00000405670.3:n.*161A>T
ENST00000449291.6:c.1537A>T	ENSP00000401508.2:p.Ser513Cys
ENST00000460623.5:c.476A>T
ENST00000464332.5:n.1081A>T
ENST00000498076.5:n.316A>T
ENST00000529179.1:n.321A>T
NM_001286829.1:c.1498A>T	NP_001273758.1:p.Ser500Cys
NM_145201.5:c.1537A>T	NP_660202.3:p.Ser513Cys
XM_011517377.1:c.1292-103A>T	XP_011515679.1:n.1292-103A>T
NM_001363145.1:c.1456A>T	NP_001350074.1:p.Ser486Cys
NM_001363146.1:c.853A>T	NP_001350075.1:p.Ser285Cys
XM_017013975.2:c.1756A>T	XP_016869464.1:p.Ser586Cys
XM_017013976.2:c.1756A>T	XP_016869465.1:p.Ser586Cys
XM_017013977.2:c.1456A>T	XP_016869466.1:p.Ser486Cys
XM_017013978.2:c.1511-103A>T	XP_016869467.1:n.1511-103A>T
XM_017013979.2:c.853A>T	XP_016869468.1:p.Ser285Cys
XM_024447332.1:c.929-103A>T	XP_024303100.1:n.929-103A>T
XM_024447333.1:c.772A>T	XP_024303101.1:p.Ser258Cys
NM_145201.6:c.1537A>T MANE Select	NP_660202.3:p.Ser513Cys
NM_001286829.2:c.1498A>T	NP_001273758.1:p.Ser500Cys