Canonical Allele Identifier: CA463375790

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143574889-G-C
• MyVariant Identifiers: chr8:g.144657059G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574889G>C , CM000670.2:g.143574889G>C	GRCh38
NC_000008.10:g.144657059G>C , CM000670.1:g.144657059G>C	GRCh37
NC_000008.9:g.144728202G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1566C>G MANE Select	ENSP00000401508.2:p.Ser522=
ENST00000340490.7:c.1651C>G	ENSP00000341136.3:p.Arg551Gly
ENST00000426292.7:c.1527C>G	ENSP00000390949.3:p.Ser509=
ENST00000435154.7:c.*275C>G	ENSP00000405670.3:n.*275C>G
ENST00000449291.6:c.1566C>G	ENSP00000401508.2:p.Ser522=
ENST00000460623.5:c.590C>G
ENST00000464332.5:n.1110C>G
ENST00000498076.5:n.345C>G
ENST00000529179.1:n.350C>G
NM_001286829.1:c.1527C>G	NP_001273758.1:p.Ser509=
NM_145201.5:c.1566C>G	NP_660202.3:p.Ser522=
XM_011517377.1:c.1303C>G	XP_011515679.1:p.Arg435Gly
NM_001363145.1:c.1485C>G	NP_001350074.1:p.Ser495=
NM_001363146.1:c.882C>G	NP_001350075.1:p.Ser294=
XM_017013975.2:c.1870C>G	XP_016869464.1:p.Arg624Gly
XM_017013976.2:c.1785C>G	XP_016869465.1:p.Ser595=
XM_017013977.2:c.1570C>G	XP_016869466.1:p.Arg524Gly
XM_017013978.2:c.1522C>G	XP_016869467.1:p.Arg508Gly
XM_017013979.2:c.967C>G	XP_016869468.1:p.Arg323Gly
XM_024447332.1:c.940C>G	XP_024303100.1:p.Arg314Gly
XM_024447333.1:c.886C>G	XP_024303101.1:p.Arg296Gly
NM_145201.6:c.1566C>G MANE Select	NP_660202.3:p.Ser522=
NM_001286829.2:c.1527C>G	NP_001273758.1:p.Ser509=