Canonical Allele Identifier: CA187546791

Gene: NAPRT

Linked Data

• dbSNP Id: rs914288709
• gnomAD v2: 8-144657179-G-A
• gnomAD v3: 8-143575009-G-A
• gnomAD v4: 8-143575009-G-A
• MyVariant Identifiers: chr8:g.144657179G>A (hg19) ; chr8:g.143575009G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575009G>A , CM000670.2:g.143575009G>A	GRCh38
NC_000008.10:g.144657179G>A , CM000670.1:g.144657179G>A	GRCh37
NC_000008.9:g.144728322G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1531C>T MANE Select	ENSP00000401508.2:p.Leu511=
ENST00000340490.7:c.1531C>T	ENSP00000341136.3:p.Leu511=
ENST00000426292.7:c.1492C>T	ENSP00000390949.3:p.Leu498=
ENST00000435154.7:c.*155C>T	ENSP00000405670.3:n.*155C>T
ENST00000449291.6:c.1531C>T	ENSP00000401508.2:p.Leu511=
ENST00000460623.5:c.470C>T
ENST00000464332.5:n.1075C>T
ENST00000498076.5:n.310C>T
ENST00000529179.1:n.315C>T
NM_001286829.1:c.1492C>T	NP_001273758.1:p.Leu498=
NM_145201.5:c.1531C>T	NP_660202.3:p.Leu511=
XM_011517377.1:c.1292-109C>T	XP_011515679.1:n.1292-109C>T
NM_001363145.1:c.1450C>T	NP_001350074.1:p.Leu484=
NM_001363146.1:c.847C>T	NP_001350075.1:p.Leu283=
XM_017013975.2:c.1750C>T	XP_016869464.1:p.Leu584=
XM_017013976.2:c.1750C>T	XP_016869465.1:p.Leu584=
XM_017013977.2:c.1450C>T	XP_016869466.1:p.Leu484=
XM_017013978.2:c.1511-109C>T	XP_016869467.1:n.1511-109C>T
XM_017013979.2:c.847C>T	XP_016869468.1:p.Leu283=
XM_024447332.1:c.929-109C>T	XP_024303100.1:n.929-109C>T
XM_024447333.1:c.766C>T	XP_024303101.1:p.Leu256=
NM_145201.6:c.1531C>T MANE Select	NP_660202.3:p.Leu511=
NM_001286829.2:c.1492C>T	NP_001273758.1:p.Leu498=