Canonical Allele Identifier: CA372448620

Gene: NAPRT

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1564T>C MANE Select	ENSP00000401508.2:p.Ser522Pro
ENST00000340490.7:c.1649T>C	ENSP00000341136.3:p.Val550Ala
ENST00000426292.7:c.1525T>C	ENSP00000390949.3:p.Ser509Pro
ENST00000435154.7:c.*273T>C	ENSP00000405670.3:n.*273T>C
ENST00000449291.6:c.1564T>C	ENSP00000401508.2:p.Ser522Pro
ENST00000460623.5:c.588T>C
ENST00000464332.5:n.1108T>C
ENST00000498076.5:n.343T>C
ENST00000529179.1:n.348T>C
NM_001286829.1:c.1525T>C	NP_001273758.1:p.Ser509Pro
NM_145201.5:c.1564T>C	NP_660202.3:p.Ser522Pro
XM_011517377.1:c.1301T>C	XP_011515679.1:p.Val434Ala
NM_001363145.1:c.1483T>C	NP_001350074.1:p.Ser495Pro
NM_001363146.1:c.880T>C	NP_001350075.1:p.Ser294Pro
XM_017013975.2:c.1868T>C	XP_016869464.1:p.Val623Ala
XM_017013976.2:c.1783T>C	XP_016869465.1:p.Ser595Pro
XM_017013977.2:c.1568T>C	XP_016869466.1:p.Val523Ala
XM_017013978.2:c.1520T>C	XP_016869467.1:p.Val507Ala
XM_017013979.2:c.965T>C	XP_016869468.1:p.Val322Ala
XM_024447332.1:c.938T>C	XP_024303100.1:p.Val313Ala
XM_024447333.1:c.884T>C	XP_024303101.1:p.Val295Ala
NM_145201.6:c.1564T>C MANE Select	NP_660202.3:p.Ser522Pro
NM_001286829.2:c.1525T>C	NP_001273758.1:p.Ser509Pro