Canonical Allele Identifier: CA372448804

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143575002-C-T
• MyVariant Identifiers: chr8:g.144657172C>T (hg19) ; chr8:g.143575002C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575002C>T , CM000670.2:g.143575002C>T	GRCh38
NC_000008.10:g.144657172C>T , CM000670.1:g.144657172C>T	GRCh37
NC_000008.9:g.144728315C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1538G>A MANE Select	ENSP00000401508.2:p.Ser513Asn
ENST00000340490.7:c.1538G>A	ENSP00000341136.3:p.Ser513Asn
ENST00000426292.7:c.1499G>A	ENSP00000390949.3:p.Ser500Asn
ENST00000435154.7:c.*162G>A	ENSP00000405670.3:n.*162G>A
ENST00000449291.6:c.1538G>A	ENSP00000401508.2:p.Ser513Asn
ENST00000460623.5:c.477G>A
ENST00000464332.5:n.1082G>A
ENST00000498076.5:n.317G>A
ENST00000529179.1:n.322G>A
NM_001286829.1:c.1499G>A	NP_001273758.1:p.Ser500Asn
NM_145201.5:c.1538G>A	NP_660202.3:p.Ser513Asn
XM_011517377.1:c.1292-102G>A	XP_011515679.1:n.1292-102G>A
NM_001363145.1:c.1457G>A	NP_001350074.1:p.Ser486Asn
NM_001363146.1:c.854G>A	NP_001350075.1:p.Ser285Asn
XM_017013975.2:c.1757G>A	XP_016869464.1:p.Ser586Asn
XM_017013976.2:c.1757G>A	XP_016869465.1:p.Ser586Asn
XM_017013977.2:c.1457G>A	XP_016869466.1:p.Ser486Asn
XM_017013978.2:c.1511-102G>A	XP_016869467.1:n.1511-102G>A
XM_017013979.2:c.854G>A	XP_016869468.1:p.Ser285Asn
XM_024447332.1:c.929-102G>A	XP_024303100.1:n.929-102G>A
XM_024447333.1:c.773G>A	XP_024303101.1:p.Ser258Asn
NM_145201.6:c.1538G>A MANE Select	NP_660202.3:p.Ser513Asn
NM_001286829.2:c.1499G>A	NP_001273758.1:p.Ser500Asn