Canonical Allele Identifier: CA372448463

Gene: NAPRT

Linked Data

• dbSNP Id: rs1253573002
• gnomAD v2: 8-144657028-A-G
• gnomAD v3: 8-143574858-A-G
• gnomAD v4: 8-143574858-A-G
• MyVariant Identifiers: chr8:g.144657028A>G (hg19) ; chr8:g.143574858A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574858A>G , CM000670.2:g.143574858A>G	GRCh38
NC_000008.10:g.144657028A>G , CM000670.1:g.144657028A>G	GRCh37
NC_000008.9:g.144728171A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1597T>C MANE Select	ENSP00000401508.2:p.Cys533Arg
ENST00000340490.7:c.1682T>C	ENSP00000341136.3:p.Val561Ala
ENST00000426292.7:c.1558T>C	ENSP00000390949.3:p.Cys520Arg
ENST00000435154.7:c.*306T>C	ENSP00000405670.3:n.*306T>C
ENST00000449291.6:c.1597T>C	ENSP00000401508.2:p.Cys533Arg
ENST00000460623.5:c.621T>C
ENST00000464332.5:n.1141T>C
ENST00000498076.5:n.376T>C
ENST00000529179.1:n.381T>C
NM_001286829.1:c.1558T>C	NP_001273758.1:p.Cys520Arg
NM_145201.5:c.1597T>C	NP_660202.3:p.Cys533Arg
XM_011517377.1:c.1334T>C	XP_011515679.1:p.Val445Ala
NM_001363145.1:c.1516T>C	NP_001350074.1:p.Cys506Arg
NM_001363146.1:c.913T>C	NP_001350075.1:p.Cys305Arg
XM_017013975.2:c.1901T>C	XP_016869464.1:p.Val634Ala
XM_017013976.2:c.1816T>C	XP_016869465.1:p.Cys606Arg
XM_017013977.2:c.1601T>C	XP_016869466.1:p.Val534Ala
XM_017013978.2:c.1553T>C	XP_016869467.1:p.Val518Ala
XM_017013979.2:c.998T>C	XP_016869468.1:p.Val333Ala
XM_024447332.1:c.971T>C	XP_024303100.1:p.Val324Ala
XM_024447333.1:c.917T>C	XP_024303101.1:p.Val306Ala
NM_145201.6:c.1597T>C MANE Select	NP_660202.3:p.Cys533Arg
NM_001286829.2:c.1558T>C	NP_001273758.1:p.Cys520Arg