Canonical Allele Identifier: CA4912606

Gene: NAPRT

Linked Data

• ClinVar Variation Id: 3175306
• ClinVar RCV Id: RCV004466635
• dbSNP Id: rs751388512
• ExAC: 8:144657214 A / T
• gnomAD v2: 8-144657214-A-T
• gnomAD v3: 8-143575044-A-T
• gnomAD v4: 8-143575044-A-T
• MyVariant Identifiers: chr8:g.144657214A>T (hg19) ; chr8:g.143575044A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575044A>T , CM000670.2:g.143575044A>T	GRCh38
NC_000008.10:g.144657214A>T , CM000670.1:g.144657214A>T	GRCh37
NC_000008.9:g.144728357A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1496T>A MANE Select	ENSP00000401508.2:p.Leu499Gln
ENST00000340490.7:c.1496T>A	ENSP00000341136.3:p.Leu499Gln
ENST00000426292.7:c.1457T>A	ENSP00000390949.3:p.Leu486Gln
ENST00000435154.7:c.*120T>A	ENSP00000405670.3:n.*120T>A
ENST00000449291.6:c.1496T>A	ENSP00000401508.2:p.Leu499Gln
ENST00000460623.5:c.435T>A
ENST00000464332.5:n.1040T>A
ENST00000498076.5:n.275T>A
ENST00000529179.1:n.280T>A
NM_001286829.1:c.1457T>A	NP_001273758.1:p.Leu486Gln
NM_145201.5:c.1496T>A	NP_660202.3:p.Leu499Gln
XM_011517377.1:c.1292-144T>A	XP_011515679.1:n.1292-144T>A
NM_001363145.1:c.1415T>A	NP_001350074.1:p.Leu472Gln
NM_001363146.1:c.812T>A	NP_001350075.1:p.Leu271Gln
XM_017013975.2:c.1715T>A	XP_016869464.1:p.Leu572Gln
XM_017013976.2:c.1715T>A	XP_016869465.1:p.Leu572Gln
XM_017013977.2:c.1415T>A	XP_016869466.1:p.Leu472Gln
XM_017013978.2:c.1511-144T>A	XP_016869467.1:n.1511-144T>A
XM_017013979.2:c.812T>A	XP_016869468.1:p.Leu271Gln
XM_024447332.1:c.929-144T>A	XP_024303100.1:n.929-144T>A
XM_024447333.1:c.731T>A	XP_024303101.1:p.Leu244Gln
NM_145201.6:c.1496T>A MANE Select	NP_660202.3:p.Leu499Gln
NM_001286829.2:c.1457T>A	NP_001273758.1:p.Leu486Gln