Canonical Allele Identifier: CA463375778

Gene: NAPRT

Linked Data

• dbSNP Id: rs1158339535
• gnomAD v2: 8-144657044-G-A
• gnomAD v4: 8-143574874-G-A
• MyVariant Identifiers: chr8:g.144657044G>A (hg19) ; chr8:g.143574874G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574874G>A , CM000670.2:g.143574874G>A	GRCh38
NC_000008.10:g.144657044G>A , CM000670.1:g.144657044G>A	GRCh37
NC_000008.9:g.144728187G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1581C>T MANE Select	ENSP00000401508.2:p.Ala527=
ENST00000340490.7:c.1666C>T	ENSP00000341136.3:p.Pro556Ser
ENST00000426292.7:c.1542C>T	ENSP00000390949.3:p.Ala514=
ENST00000435154.7:c.*290C>T	ENSP00000405670.3:n.*290C>T
ENST00000449291.6:c.1581C>T	ENSP00000401508.2:p.Ala527=
ENST00000460623.5:c.605C>T
ENST00000464332.5:n.1125C>T
ENST00000498076.5:n.360C>T
ENST00000529179.1:n.365C>T
NM_001286829.1:c.1542C>T	NP_001273758.1:p.Ala514=
NM_145201.5:c.1581C>T	NP_660202.3:p.Ala527=
XM_011517377.1:c.1318C>T	XP_011515679.1:p.Pro440Ser
NM_001363145.1:c.1500C>T	NP_001350074.1:p.Ala500=
NM_001363146.1:c.897C>T	NP_001350075.1:p.Ala299=
XM_017013975.2:c.1885C>T	XP_016869464.1:p.Pro629Ser
XM_017013976.2:c.1800C>T	XP_016869465.1:p.Ala600=
XM_017013977.2:c.1585C>T	XP_016869466.1:p.Pro529Ser
XM_017013978.2:c.1537C>T	XP_016869467.1:p.Pro513Ser
XM_017013979.2:c.982C>T	XP_016869468.1:p.Pro328Ser
XM_024447332.1:c.955C>T	XP_024303100.1:p.Pro319Ser
XM_024447333.1:c.901C>T	XP_024303101.1:p.Pro301Ser
NM_145201.6:c.1581C>T MANE Select	NP_660202.3:p.Ala527=
NM_001286829.2:c.1542C>T	NP_001273758.1:p.Ala514=