Canonical Allele Identifier: CA372448604

Gene: NAPRT

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1567G>T MANE Select	ENSP00000401508.2:p.Glu523Ter
ENST00000340490.7:c.1652G>T	ENSP00000341136.3:p.Arg551Leu
ENST00000426292.7:c.1528G>T	ENSP00000390949.3:p.Glu510Ter
ENST00000435154.7:c.*276G>T	ENSP00000405670.3:n.*276G>T
ENST00000449291.6:c.1567G>T	ENSP00000401508.2:p.Glu523Ter
ENST00000460623.5:c.591G>T
ENST00000464332.5:n.1111G>T
ENST00000498076.5:n.346G>T
ENST00000529179.1:n.351G>T
NM_001286829.1:c.1528G>T	NP_001273758.1:p.Glu510Ter
NM_145201.5:c.1567G>T	NP_660202.3:p.Glu523Ter
XM_011517377.1:c.1304G>T	XP_011515679.1:p.Arg435Leu
NM_001363145.1:c.1486G>T	NP_001350074.1:p.Glu496Ter
NM_001363146.1:c.883G>T	NP_001350075.1:p.Glu295Ter
XM_017013975.2:c.1871G>T	XP_016869464.1:p.Arg624Leu
XM_017013976.2:c.1786G>T	XP_016869465.1:p.Glu596Ter
XM_017013977.2:c.1571G>T	XP_016869466.1:p.Arg524Leu
XM_017013978.2:c.1523G>T	XP_016869467.1:p.Arg508Leu
XM_017013979.2:c.968G>T	XP_016869468.1:p.Arg323Leu
XM_024447332.1:c.941G>T	XP_024303100.1:p.Arg314Leu
XM_024447333.1:c.887G>T	XP_024303101.1:p.Arg296Leu
NM_145201.6:c.1567G>T MANE Select	NP_660202.3:p.Glu523Ter
NM_001286829.2:c.1528G>T	NP_001273758.1:p.Glu510Ter