Canonical Allele Identifier: CA372448496

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657036T>C (hg19) ; chr8:g.143574866T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574866T>C , CM000670.2:g.143574866T>C	GRCh38
NC_000008.10:g.144657036T>C , CM000670.1:g.144657036T>C	GRCh37
NC_000008.9:g.144728179T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1589A>G MANE Select	ENSP00000401508.2:p.Asn530Ser
ENST00000340490.7:c.1674A>G	ENSP00000341136.3:p.Glu558=
ENST00000426292.7:c.1550A>G	ENSP00000390949.3:p.Asn517Ser
ENST00000435154.7:c.*298A>G	ENSP00000405670.3:n.*298A>G
ENST00000449291.6:c.1589A>G	ENSP00000401508.2:p.Asn530Ser
ENST00000460623.5:c.613A>G
ENST00000464332.5:n.1133A>G
ENST00000498076.5:n.368A>G
ENST00000529179.1:n.373A>G
NM_001286829.1:c.1550A>G	NP_001273758.1:p.Asn517Ser
NM_145201.5:c.1589A>G	NP_660202.3:p.Asn530Ser
XM_011517377.1:c.1326A>G	XP_011515679.1:p.Glu442=
NM_001363145.1:c.1508A>G	NP_001350074.1:p.Asn503Ser
NM_001363146.1:c.905A>G	NP_001350075.1:p.Asn302Ser
XM_017013975.2:c.1893A>G	XP_016869464.1:p.Glu631=
XM_017013976.2:c.1808A>G	XP_016869465.1:p.Asn603Ser
XM_017013977.2:c.1593A>G	XP_016869466.1:p.Glu531=
XM_017013978.2:c.1545A>G	XP_016869467.1:p.Glu515=
XM_017013979.2:c.990A>G	XP_016869468.1:p.Glu330=
XM_024447332.1:c.963A>G	XP_024303100.1:p.Glu321=
XM_024447333.1:c.909A>G	XP_024303101.1:p.Glu303=
NM_145201.6:c.1589A>G MANE Select	NP_660202.3:p.Asn530Ser
NM_001286829.2:c.1550A>G	NP_001273758.1:p.Asn517Ser