Canonical Allele Identifier: CA372448728

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657158G>T (hg19) ; chr8:g.143574988G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574988G>T , CM000670.2:g.143574988G>T	GRCh38
NC_000008.10:g.144657158G>T , CM000670.1:g.144657158G>T	GRCh37
NC_000008.9:g.144728301G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1552C>A MANE Select	ENSP00000401508.2:p.Gln518Lys
ENST00000340490.7:c.1552C>A	ENSP00000341136.3:p.Gln518Lys
ENST00000426292.7:c.1513C>A	ENSP00000390949.3:p.Gln505Lys
ENST00000435154.7:c.*176C>A	ENSP00000405670.3:n.*176C>A
ENST00000449291.6:c.1552C>A	ENSP00000401508.2:p.Gln518Lys
ENST00000460623.5:c.491C>A
ENST00000464332.5:n.1096C>A
ENST00000498076.5:n.331C>A
ENST00000529179.1:n.336C>A
NM_001286829.1:c.1513C>A	NP_001273758.1:p.Gln505Lys
NM_145201.5:c.1552C>A	NP_660202.3:p.Gln518Lys
XM_011517377.1:c.1292-88C>A	XP_011515679.1:n.1292-88C>A
NM_001363145.1:c.1471C>A	NP_001350074.1:p.Gln491Lys
NM_001363146.1:c.868C>A	NP_001350075.1:p.Gln290Lys
XM_017013975.2:c.1771C>A	XP_016869464.1:p.Gln591Lys
XM_017013976.2:c.1771C>A	XP_016869465.1:p.Gln591Lys
XM_017013977.2:c.1471C>A	XP_016869466.1:p.Gln491Lys
XM_017013978.2:c.1511-88C>A	XP_016869467.1:n.1511-88C>A
XM_017013979.2:c.868C>A	XP_016869468.1:p.Gln290Lys
XM_024447332.1:c.929-88C>A	XP_024303100.1:n.929-88C>A
XM_024447333.1:c.787C>A	XP_024303101.1:p.Gln263Lys
NM_145201.6:c.1552C>A MANE Select	NP_660202.3:p.Gln518Lys
NM_001286829.2:c.1513C>A	NP_001273758.1:p.Gln505Lys