Canonical Allele Identifier: CA463375786

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143574883-C-T
• MyVariant Identifiers: chr8:g.144657053C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574883C>T , CM000670.2:g.143574883C>T	GRCh38
NC_000008.10:g.144657053C>T , CM000670.1:g.144657053C>T	GRCh37
NC_000008.9:g.144728196C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1572G>A MANE Select	ENSP00000401508.2:p.Arg524=
ENST00000340490.7:c.1657G>A	ENSP00000341136.3:p.Ala553Thr
ENST00000426292.7:c.1533G>A	ENSP00000390949.3:p.Arg511=
ENST00000435154.7:c.*281G>A	ENSP00000405670.3:n.*281G>A
ENST00000449291.6:c.1572G>A	ENSP00000401508.2:p.Arg524=
ENST00000460623.5:c.596G>A
ENST00000464332.5:n.1116G>A
ENST00000498076.5:n.351G>A
ENST00000529179.1:n.356G>A
NM_001286829.1:c.1533G>A	NP_001273758.1:p.Arg511=
NM_145201.5:c.1572G>A	NP_660202.3:p.Arg524=
XM_011517377.1:c.1309G>A	XP_011515679.1:p.Ala437Thr
NM_001363145.1:c.1491G>A	NP_001350074.1:p.Arg497=
NM_001363146.1:c.888G>A	NP_001350075.1:p.Arg296=
XM_017013975.2:c.1876G>A	XP_016869464.1:p.Ala626Thr
XM_017013976.2:c.1791G>A	XP_016869465.1:p.Arg597=
XM_017013977.2:c.1576G>A	XP_016869466.1:p.Ala526Thr
XM_017013978.2:c.1528G>A	XP_016869467.1:p.Ala510Thr
XM_017013979.2:c.973G>A	XP_016869468.1:p.Ala325Thr
XM_024447332.1:c.946G>A	XP_024303100.1:p.Ala316Thr
XM_024447333.1:c.892G>A	XP_024303101.1:p.Ala298Thr
NM_145201.6:c.1572G>A MANE Select	NP_660202.3:p.Arg524=
NM_001286829.2:c.1533G>A	NP_001273758.1:p.Arg511=