Canonical Allele Identifier: CA372449885

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143575231-T-G
• MyVariant Identifiers: chr8:g.144657401T>G (hg19) ; chr8:g.143575231T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575231T>G , CM000670.2:g.143575231T>G	GRCh38
NC_000008.10:g.144657401T>G , CM000670.1:g.144657401T>G	GRCh37
NC_000008.9:g.144728544T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1406A>C MANE Select	ENSP00000401508.2:p.Gln469Pro
ENST00000340490.7:c.1406A>C	ENSP00000341136.3:p.Gln469Pro
ENST00000426292.7:c.1406A>C	ENSP00000390949.3:p.Gln469Pro
ENST00000435154.7:c.1406A>C	ENSP00000405670.3:p.Gln469Pro
ENST00000449291.6:c.1406A>C	ENSP00000401508.2:p.Gln469Pro
ENST00000460623.5:c.384A>C
ENST00000464332.5:n.950A>C
ENST00000498076.5:n.185A>C
ENST00000529179.1:n.93A>C
NM_001286829.1:c.1406A>C	NP_001273758.1:p.Gln469Pro
NM_145201.5:c.1406A>C	NP_660202.3:p.Gln469Pro
XM_011517377.1:c.1291+192A>C	XP_011515679.1:n.1291+192A>C
NM_001363145.1:c.1325A>C	NP_001350074.1:p.Gln442Pro
NM_001363146.1:c.722A>C	NP_001350075.1:p.Gln241Pro
XM_017013975.2:c.1625A>C	XP_016869464.1:p.Gln542Pro
XM_017013976.2:c.1625A>C	XP_016869465.1:p.Gln542Pro
XM_017013977.2:c.1325A>C	XP_016869466.1:p.Gln442Pro
XM_017013978.2:c.1510+192A>C	XP_016869467.1:n.1510+192A>C
XM_017013979.2:c.722A>C	XP_016869468.1:p.Gln241Pro
XM_024447332.1:c.928+192A>C	XP_024303100.1:n.928+192A>C
XM_024447333.1:c.641A>C	XP_024303101.1:p.Gln214Pro
NM_145201.6:c.1406A>C MANE Select	NP_660202.3:p.Gln469Pro
NM_001286829.2:c.1406A>C	NP_001273758.1:p.Gln469Pro