Canonical Allele Identifier: CA372451392

Gene: NAPRT

Linked Data

• dbSNP Id: rs1469775566
• gnomAD v2: 8-144657676-T-C
• gnomAD v3: 8-143575506-T-C
• gnomAD v4: 8-143575506-T-C
• MyVariant Identifiers: chr8:g.144657676T>C (hg19) ; chr8:g.143575506T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575506T>C , CM000670.2:g.143575506T>C	GRCh38
NC_000008.10:g.144657676T>C , CM000670.1:g.144657676T>C	GRCh37
NC_000008.9:g.144728819T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1208A>G MANE Select	ENSP00000401508.2:p.Gln403Arg
ENST00000340490.7:c.1208A>G	ENSP00000341136.3:p.Gln403Arg
ENST00000426292.7:c.1208A>G	ENSP00000390949.3:p.Gln403Arg
ENST00000435154.7:c.1208A>G	ENSP00000405670.3:p.Gln403Arg
ENST00000449291.6:c.1208A>G	ENSP00000401508.2:p.Gln403Arg
ENST00000460623.5:c.186A>G
ENST00000464332.5:n.752A>G
ENST00000525583.5:c.992A>G
NM_001286829.1:c.1208A>G	NP_001273758.1:p.Gln403Arg
NM_145201.5:c.1208A>G	NP_660202.3:p.Gln403Arg
XM_011517377.1:c.1208A>G	XP_011515679.1:p.Gln403Arg
NM_001363145.1:c.1127A>G	NP_001350074.1:p.Gln376Arg
NM_001363146.1:c.524A>G	NP_001350075.1:p.Gln175Arg
XM_017013975.2:c.1427A>G	XP_016869464.1:p.Gln476Arg
XM_017013976.2:c.1427A>G	XP_016869465.1:p.Gln476Arg
XM_017013977.2:c.1127A>G	XP_016869466.1:p.Gln376Arg
XM_017013978.2:c.1427A>G	XP_016869467.1:p.Gln476Arg
XM_017013979.2:c.524A>G	XP_016869468.1:p.Gln175Arg
XM_024447332.1:c.845A>G	XP_024303100.1:p.Gln282Arg
XM_024447333.1:c.443A>G	XP_024303101.1:p.Gln148Arg
NM_145201.6:c.1208A>G MANE Select	NP_660202.3:p.Gln403Arg
NM_001286829.2:c.1208A>G	NP_001273758.1:p.Gln403Arg