Canonical Allele Identifier: CA372448607

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143574888-C-G
• MyVariant Identifiers: chr8:g.144657058C>G (hg19) ; chr8:g.143574888C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574888C>G , CM000670.2:g.143574888C>G	GRCh38
NC_000008.10:g.144657058C>G , CM000670.1:g.144657058C>G	GRCh37
NC_000008.9:g.144728201C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1567G>C MANE Select	ENSP00000401508.2:p.Glu523Gln
ENST00000340490.7:c.1652G>C	ENSP00000341136.3:p.Arg551Pro
ENST00000426292.7:c.1528G>C	ENSP00000390949.3:p.Glu510Gln
ENST00000435154.7:c.*276G>C	ENSP00000405670.3:n.*276G>C
ENST00000449291.6:c.1567G>C	ENSP00000401508.2:p.Glu523Gln
ENST00000460623.5:c.591G>C
ENST00000464332.5:n.1111G>C
ENST00000498076.5:n.346G>C
ENST00000529179.1:n.351G>C
NM_001286829.1:c.1528G>C	NP_001273758.1:p.Glu510Gln
NM_145201.5:c.1567G>C	NP_660202.3:p.Glu523Gln
XM_011517377.1:c.1304G>C	XP_011515679.1:p.Arg435Pro
NM_001363145.1:c.1486G>C	NP_001350074.1:p.Glu496Gln
NM_001363146.1:c.883G>C	NP_001350075.1:p.Glu295Gln
XM_017013975.2:c.1871G>C	XP_016869464.1:p.Arg624Pro
XM_017013976.2:c.1786G>C	XP_016869465.1:p.Glu596Gln
XM_017013977.2:c.1571G>C	XP_016869466.1:p.Arg524Pro
XM_017013978.2:c.1523G>C	XP_016869467.1:p.Arg508Pro
XM_017013979.2:c.968G>C	XP_016869468.1:p.Arg323Pro
XM_024447332.1:c.941G>C	XP_024303100.1:p.Arg314Pro
XM_024447333.1:c.887G>C	XP_024303101.1:p.Arg296Pro
NM_145201.6:c.1567G>C MANE Select	NP_660202.3:p.Glu523Gln
NM_001286829.2:c.1528G>C	NP_001273758.1:p.Glu510Gln