Canonical Allele Identifier: CA372448892

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657197T>G (hg19) ; chr8:g.143575027T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575027T>G , CM000670.2:g.143575027T>G	GRCh38
NC_000008.10:g.144657197T>G , CM000670.1:g.144657197T>G	GRCh37
NC_000008.9:g.144728340T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1513A>C MANE Select	ENSP00000401508.2:p.Ser505Arg
ENST00000340490.7:c.1513A>C	ENSP00000341136.3:p.Ser505Arg
ENST00000426292.7:c.1474A>C	ENSP00000390949.3:p.Ser492Arg
ENST00000435154.7:c.*137A>C	ENSP00000405670.3:n.*137A>C
ENST00000449291.6:c.1513A>C	ENSP00000401508.2:p.Ser505Arg
ENST00000460623.5:c.452A>C
ENST00000464332.5:n.1057A>C
ENST00000498076.5:n.292A>C
ENST00000529179.1:n.297A>C
NM_001286829.1:c.1474A>C	NP_001273758.1:p.Ser492Arg
NM_145201.5:c.1513A>C	NP_660202.3:p.Ser505Arg
XM_011517377.1:c.1292-127A>C	XP_011515679.1:n.1292-127A>C
NM_001363145.1:c.1432A>C	NP_001350074.1:p.Ser478Arg
NM_001363146.1:c.829A>C	NP_001350075.1:p.Ser277Arg
XM_017013975.2:c.1732A>C	XP_016869464.1:p.Ser578Arg
XM_017013976.2:c.1732A>C	XP_016869465.1:p.Ser578Arg
XM_017013977.2:c.1432A>C	XP_016869466.1:p.Ser478Arg
XM_017013978.2:c.1511-127A>C	XP_016869467.1:n.1511-127A>C
XM_017013979.2:c.829A>C	XP_016869468.1:p.Ser277Arg
XM_024447332.1:c.929-127A>C	XP_024303100.1:n.929-127A>C
XM_024447333.1:c.748A>C	XP_024303101.1:p.Ser250Arg
NM_145201.6:c.1513A>C MANE Select	NP_660202.3:p.Ser505Arg
NM_001286829.2:c.1474A>C	NP_001273758.1:p.Ser492Arg