Canonical Allele Identifier: CA372448584

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143574884-C-G
• MyVariant Identifiers: chr8:g.144657054C>G (hg19) ; chr8:g.143574884C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574884C>G , CM000670.2:g.143574884C>G	GRCh38
NC_000008.10:g.144657054C>G , CM000670.1:g.144657054C>G	GRCh37
NC_000008.9:g.144728197C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1571G>C MANE Select	ENSP00000401508.2:p.Arg524Thr
ENST00000340490.7:c.1656G>C	ENSP00000341136.3:p.Glu552Asp
ENST00000426292.7:c.1532G>C	ENSP00000390949.3:p.Arg511Thr
ENST00000435154.7:c.*280G>C	ENSP00000405670.3:n.*280G>C
ENST00000449291.6:c.1571G>C	ENSP00000401508.2:p.Arg524Thr
ENST00000460623.5:c.595G>C
ENST00000464332.5:n.1115G>C
ENST00000498076.5:n.350G>C
ENST00000529179.1:n.355G>C
NM_001286829.1:c.1532G>C	NP_001273758.1:p.Arg511Thr
NM_145201.5:c.1571G>C	NP_660202.3:p.Arg524Thr
XM_011517377.1:c.1308G>C	XP_011515679.1:p.Glu436Asp
NM_001363145.1:c.1490G>C	NP_001350074.1:p.Arg497Thr
NM_001363146.1:c.887G>C	NP_001350075.1:p.Arg296Thr
XM_017013975.2:c.1875G>C	XP_016869464.1:p.Glu625Asp
XM_017013976.2:c.1790G>C	XP_016869465.1:p.Arg597Thr
XM_017013977.2:c.1575G>C	XP_016869466.1:p.Glu525Asp
XM_017013978.2:c.1527G>C	XP_016869467.1:p.Glu509Asp
XM_017013979.2:c.972G>C	XP_016869468.1:p.Glu324Asp
XM_024447332.1:c.945G>C	XP_024303100.1:p.Glu315Asp
XM_024447333.1:c.891G>C	XP_024303101.1:p.Glu297Asp
NM_145201.6:c.1571G>C MANE Select	NP_660202.3:p.Arg524Thr
NM_001286829.2:c.1532G>C	NP_001273758.1:p.Arg511Thr