Canonical Allele Identifier: CA372448546

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143574876-C-T
• MyVariant Identifiers: chr8:g.144657046C>T (hg19) ; chr8:g.143574876C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574876C>T , CM000670.2:g.143574876C>T	GRCh38
NC_000008.10:g.144657046C>T , CM000670.1:g.144657046C>T	GRCh37
NC_000008.9:g.144728189C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1579G>A MANE Select	ENSP00000401508.2:p.Ala527Thr
ENST00000340490.7:c.1664G>A	ENSP00000341136.3:p.Gly555Asp
ENST00000426292.7:c.1540G>A	ENSP00000390949.3:p.Ala514Thr
ENST00000435154.7:c.*288G>A	ENSP00000405670.3:n.*288G>A
ENST00000449291.6:c.1579G>A	ENSP00000401508.2:p.Ala527Thr
ENST00000460623.5:c.603G>A
ENST00000464332.5:n.1123G>A
ENST00000498076.5:n.358G>A
ENST00000529179.1:n.363G>A
NM_001286829.1:c.1540G>A	NP_001273758.1:p.Ala514Thr
NM_145201.5:c.1579G>A	NP_660202.3:p.Ala527Thr
XM_011517377.1:c.1316G>A	XP_011515679.1:p.Gly439Asp
NM_001363145.1:c.1498G>A	NP_001350074.1:p.Ala500Thr
NM_001363146.1:c.895G>A	NP_001350075.1:p.Ala299Thr
XM_017013975.2:c.1883G>A	XP_016869464.1:p.Gly628Asp
XM_017013976.2:c.1798G>A	XP_016869465.1:p.Ala600Thr
XM_017013977.2:c.1583G>A	XP_016869466.1:p.Gly528Asp
XM_017013978.2:c.1535G>A	XP_016869467.1:p.Gly512Asp
XM_017013979.2:c.980G>A	XP_016869468.1:p.Gly327Asp
XM_024447332.1:c.953G>A	XP_024303100.1:p.Gly318Asp
XM_024447333.1:c.899G>A	XP_024303101.1:p.Gly300Asp
NM_145201.6:c.1579G>A MANE Select	NP_660202.3:p.Ala527Thr
NM_001286829.2:c.1540G>A	NP_001273758.1:p.Ala514Thr