Canonical Allele Identifier: CA372448705

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657155C>A (hg19) ; chr8:g.143574985C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574985C>A , CM000670.2:g.143574985C>A	GRCh38
NC_000008.10:g.144657155C>A , CM000670.1:g.144657155C>A	GRCh37
NC_000008.9:g.144728298C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1554+1G>T MANE Select	ENSP00000401508.2:n.1554+1G>T
ENST00000340490.7:c.1555G>T	ENSP00000341136.3:p.Val519Phe
ENST00000426292.7:c.1515+1G>T	ENSP00000390949.3:n.1515+1G>T
ENST00000435154.7:c.*179G>T	ENSP00000405670.3:n.*179G>T
ENST00000449291.6:c.1554+1G>T	ENSP00000401508.2:n.1554+1G>T
ENST00000460623.5:c.494G>T
ENST00000464332.5:n.1098+1G>T
ENST00000498076.5:n.333+1G>T
ENST00000529179.1:n.338+1G>T
NM_001286829.1:c.1515+1G>T	NP_001273758.1:n.1515+1G>T
NM_145201.5:c.1554+1G>T	NP_660202.3:n.1554+1G>T
XM_011517377.1:c.1292-85G>T	XP_011515679.1:n.1292-85G>T
NM_001363145.1:c.1473+1G>T	NP_001350074.1:n.1473+1G>T
NM_001363146.1:c.870+1G>T	NP_001350075.1:n.870+1G>T
XM_017013975.2:c.1774G>T	XP_016869464.1:p.Val592Phe
XM_017013976.2:c.1773+1G>T	XP_016869465.1:n.1773+1G>T
XM_017013977.2:c.1474G>T	XP_016869466.1:p.Val492Phe
XM_017013978.2:c.1511-85G>T	XP_016869467.1:n.1511-85G>T
XM_017013979.2:c.871G>T	XP_016869468.1:p.Val291Phe
XM_024447332.1:c.929-85G>T	XP_024303100.1:n.929-85G>T
XM_024447333.1:c.790G>T	XP_024303101.1:p.Val264Phe
NM_145201.6:c.1554+1G>T MANE Select	NP_660202.3:n.1554+1G>T
NM_001286829.2:c.1515+1G>T	NP_001273758.1:n.1515+1G>T