Canonical Allele Identifier: CA372448622

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143574891-A-T
• MyVariant Identifiers: chr8:g.144657061A>T (hg19) ; chr8:g.143574891A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574891A>T , CM000670.2:g.143574891A>T	GRCh38
NC_000008.10:g.144657061A>T , CM000670.1:g.144657061A>T	GRCh37
NC_000008.9:g.144728204A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1564T>A MANE Select	ENSP00000401508.2:p.Ser522Thr
ENST00000340490.7:c.1649T>A	ENSP00000341136.3:p.Val550Asp
ENST00000426292.7:c.1525T>A	ENSP00000390949.3:p.Ser509Thr
ENST00000435154.7:c.*273T>A	ENSP00000405670.3:n.*273T>A
ENST00000449291.6:c.1564T>A	ENSP00000401508.2:p.Ser522Thr
ENST00000460623.5:c.588T>A
ENST00000464332.5:n.1108T>A
ENST00000498076.5:n.343T>A
ENST00000529179.1:n.348T>A
NM_001286829.1:c.1525T>A	NP_001273758.1:p.Ser509Thr
NM_145201.5:c.1564T>A	NP_660202.3:p.Ser522Thr
XM_011517377.1:c.1301T>A	XP_011515679.1:p.Val434Asp
NM_001363145.1:c.1483T>A	NP_001350074.1:p.Ser495Thr
NM_001363146.1:c.880T>A	NP_001350075.1:p.Ser294Thr
XM_017013975.2:c.1868T>A	XP_016869464.1:p.Val623Asp
XM_017013976.2:c.1783T>A	XP_016869465.1:p.Ser595Thr
XM_017013977.2:c.1568T>A	XP_016869466.1:p.Val523Asp
XM_017013978.2:c.1520T>A	XP_016869467.1:p.Val507Asp
XM_017013979.2:c.965T>A	XP_016869468.1:p.Val322Asp
XM_024447332.1:c.938T>A	XP_024303100.1:p.Val313Asp
XM_024447333.1:c.884T>A	XP_024303101.1:p.Val295Asp
NM_145201.6:c.1564T>A MANE Select	NP_660202.3:p.Ser522Thr
NM_001286829.2:c.1525T>A	NP_001273758.1:p.Ser509Thr