Canonical Allele Identifier: CA4912588

Gene: NAPRT

Linked Data

• dbSNP Id: rs368505387
• ExAC: 8:144657059 G / A
• gnomAD v2: 8-144657059-G-A
• gnomAD v3: 8-143574889-G-A
• gnomAD v4: 8-143574889-G-A
• MyVariant Identifiers: chr8:g.144657059G>A (hg19) ; chr8:g.143574889G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1566C>T MANE Select	ENSP00000401508.2:p.Ser522=
ENST00000340490.7:c.1651C>T	ENSP00000341136.3:p.Arg551Ter
ENST00000426292.7:c.1527C>T	ENSP00000390949.3:p.Ser509=
ENST00000435154.7:c.*275C>T	ENSP00000405670.3:n.*275C>T
ENST00000449291.6:c.1566C>T	ENSP00000401508.2:p.Ser522=
ENST00000460623.5:c.590C>T
ENST00000464332.5:n.1110C>T
ENST00000498076.5:n.345C>T
ENST00000529179.1:n.350C>T
NM_001286829.1:c.1527C>T	NP_001273758.1:p.Ser509=
NM_145201.5:c.1566C>T	NP_660202.3:p.Ser522=
XM_011517377.1:c.1303C>T	XP_011515679.1:p.Arg435Ter
NM_001363145.1:c.1485C>T	NP_001350074.1:p.Ser495=
NM_001363146.1:c.882C>T	NP_001350075.1:p.Ser294=
XM_017013975.2:c.1870C>T	XP_016869464.1:p.Arg624Ter
XM_017013976.2:c.1785C>T	XP_016869465.1:p.Ser595=
XM_017013977.2:c.1570C>T	XP_016869466.1:p.Arg524Ter
XM_017013978.2:c.1522C>T	XP_016869467.1:p.Arg508Ter
XM_017013979.2:c.967C>T	XP_016869468.1:p.Arg323Ter
XM_024447332.1:c.940C>T	XP_024303100.1:p.Arg314Ter
XM_024447333.1:c.886C>T	XP_024303101.1:p.Arg296Ter
NM_145201.6:c.1566C>T MANE Select	NP_660202.3:p.Ser522=
NM_001286829.2:c.1527C>T	NP_001273758.1:p.Ser509=