Canonical Allele Identifier: CA463375785

Gene: NAPRT

Linked Data

• dbSNP Id: rs1343189789
• gnomAD v2: 8-144657052-G-A
• gnomAD v4: 8-143574882-G-A
• MyVariant Identifiers: chr8:g.144657052G>A (hg19) ; chr8:g.143574882G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574882G>A , CM000670.2:g.143574882G>A	GRCh38
NC_000008.10:g.144657052G>A , CM000670.1:g.144657052G>A	GRCh37
NC_000008.9:g.144728195G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1573C>T MANE Select	ENSP00000401508.2:p.Leu525=
ENST00000340490.7:c.1658C>T	ENSP00000341136.3:p.Ala553Val
ENST00000426292.7:c.1534C>T	ENSP00000390949.3:p.Leu512=
ENST00000435154.7:c.*282C>T	ENSP00000405670.3:n.*282C>T
ENST00000449291.6:c.1573C>T	ENSP00000401508.2:p.Leu525=
ENST00000460623.5:c.597C>T
ENST00000464332.5:n.1117C>T
ENST00000498076.5:n.352C>T
ENST00000529179.1:n.357C>T
NM_001286829.1:c.1534C>T	NP_001273758.1:p.Leu512=
NM_145201.5:c.1573C>T	NP_660202.3:p.Leu525=
XM_011517377.1:c.1310C>T	XP_011515679.1:p.Ala437Val
NM_001363145.1:c.1492C>T	NP_001350074.1:p.Leu498=
NM_001363146.1:c.889C>T	NP_001350075.1:p.Leu297=
XM_017013975.2:c.1877C>T	XP_016869464.1:p.Ala626Val
XM_017013976.2:c.1792C>T	XP_016869465.1:p.Leu598=
XM_017013977.2:c.1577C>T	XP_016869466.1:p.Ala526Val
XM_017013978.2:c.1529C>T	XP_016869467.1:p.Ala510Val
XM_017013979.2:c.974C>T	XP_016869468.1:p.Ala325Val
XM_024447332.1:c.947C>T	XP_024303100.1:p.Ala316Val
XM_024447333.1:c.893C>T	XP_024303101.1:p.Ala298Val
NM_145201.6:c.1573C>T MANE Select	NP_660202.3:p.Leu525=
NM_001286829.2:c.1534C>T	NP_001273758.1:p.Leu512=