Canonical Allele Identifier: CA4912587

Gene: NAPRT

Linked Data

• dbSNP Id: rs758303756
• ExAC: 8:144657058 C / T
• gnomAD v2: 8-144657058-C-T
• gnomAD v3: 8-143574888-C-T
• gnomAD v4: 8-143574888-C-T
• MyVariant Identifiers: chr8:g.144657058C>T (hg19) ; chr8:g.143574888C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1567G>A MANE Select	ENSP00000401508.2:p.Glu523Lys
ENST00000340490.7:c.1652G>A	ENSP00000341136.3:p.Arg551Gln
ENST00000426292.7:c.1528G>A	ENSP00000390949.3:p.Glu510Lys
ENST00000435154.7:c.*276G>A	ENSP00000405670.3:n.*276G>A
ENST00000449291.6:c.1567G>A	ENSP00000401508.2:p.Glu523Lys
ENST00000460623.5:c.591G>A
ENST00000464332.5:n.1111G>A
ENST00000498076.5:n.346G>A
ENST00000529179.1:n.351G>A
NM_001286829.1:c.1528G>A	NP_001273758.1:p.Glu510Lys
NM_145201.5:c.1567G>A	NP_660202.3:p.Glu523Lys
XM_011517377.1:c.1304G>A	XP_011515679.1:p.Arg435Gln
NM_001363145.1:c.1486G>A	NP_001350074.1:p.Glu496Lys
NM_001363146.1:c.883G>A	NP_001350075.1:p.Glu295Lys
XM_017013975.2:c.1871G>A	XP_016869464.1:p.Arg624Gln
XM_017013976.2:c.1786G>A	XP_016869465.1:p.Glu596Lys
XM_017013977.2:c.1571G>A	XP_016869466.1:p.Arg524Gln
XM_017013978.2:c.1523G>A	XP_016869467.1:p.Arg508Gln
XM_017013979.2:c.968G>A	XP_016869468.1:p.Arg323Gln
XM_024447332.1:c.941G>A	XP_024303100.1:p.Arg314Gln
XM_024447333.1:c.887G>A	XP_024303101.1:p.Arg296Gln
NM_145201.6:c.1567G>A MANE Select	NP_660202.3:p.Glu523Lys
NM_001286829.2:c.1528G>A	NP_001273758.1:p.Glu510Lys