Canonical Allele Identifier: CA463375949

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657671G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575501G>T , CM000670.2:g.143575501G>T	GRCh38
NC_000008.10:g.144657671G>T , CM000670.1:g.144657671G>T	GRCh37
NC_000008.9:g.144728814G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1213C>A MANE Select	ENSP00000401508.2:p.Arg405=
ENST00000340490.7:c.1213C>A	ENSP00000341136.3:p.Arg405=
ENST00000426292.7:c.1213C>A	ENSP00000390949.3:p.Arg405=
ENST00000435154.7:c.1213C>A	ENSP00000405670.3:p.Arg405=
ENST00000449291.6:c.1213C>A	ENSP00000401508.2:p.Arg405=
ENST00000460623.5:c.191C>A
ENST00000464332.5:n.757C>A
ENST00000525583.5:c.997C>A
NM_001286829.1:c.1213C>A	NP_001273758.1:p.Arg405=
NM_145201.5:c.1213C>A	NP_660202.3:p.Arg405=
XM_011517377.1:c.1213C>A	XP_011515679.1:p.Arg405=
NM_001363145.1:c.1132C>A	NP_001350074.1:p.Arg378=
NM_001363146.1:c.529C>A	NP_001350075.1:p.Arg177=
XM_017013975.2:c.1432C>A	XP_016869464.1:p.Arg478=
XM_017013976.2:c.1432C>A	XP_016869465.1:p.Arg478=
XM_017013977.2:c.1132C>A	XP_016869466.1:p.Arg378=
XM_017013978.2:c.1432C>A	XP_016869467.1:p.Arg478=
XM_017013979.2:c.529C>A	XP_016869468.1:p.Arg177=
XM_024447332.1:c.850C>A	XP_024303100.1:p.Arg284=
XM_024447333.1:c.448C>A	XP_024303101.1:p.Arg150=
NM_145201.6:c.1213C>A MANE Select	NP_660202.3:p.Arg405=
NM_001286829.2:c.1213C>A	NP_001273758.1:p.Arg405=