Canonical Allele Identifier: CA372451159

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657646T>G (hg19) ; chr8:g.143575476T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575476T>G , CM000670.2:g.143575476T>G	GRCh38
NC_000008.10:g.144657646T>G , CM000670.1:g.144657646T>G	GRCh37
NC_000008.9:g.144728789T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1238A>C MANE Select	ENSP00000401508.2:p.Glu413Ala
ENST00000340490.7:c.1238A>C	ENSP00000341136.3:p.Glu413Ala
ENST00000426292.7:c.1238A>C	ENSP00000390949.3:p.Glu413Ala
ENST00000435154.7:c.1238A>C	ENSP00000405670.3:p.Glu413Ala
ENST00000449291.6:c.1238A>C	ENSP00000401508.2:p.Glu413Ala
ENST00000460623.5:c.216A>C
ENST00000464332.5:n.782A>C
ENST00000525583.5:c.1022A>C
NM_001286829.1:c.1238A>C	NP_001273758.1:p.Glu413Ala
NM_145201.5:c.1238A>C	NP_660202.3:p.Glu413Ala
XM_011517377.1:c.1238A>C	XP_011515679.1:p.Glu413Ala
NM_001363145.1:c.1157A>C	NP_001350074.1:p.Glu386Ala
NM_001363146.1:c.554A>C	NP_001350075.1:p.Glu185Ala
XM_017013975.2:c.1457A>C	XP_016869464.1:p.Glu486Ala
XM_017013976.2:c.1457A>C	XP_016869465.1:p.Glu486Ala
XM_017013977.2:c.1157A>C	XP_016869466.1:p.Glu386Ala
XM_017013978.2:c.1457A>C	XP_016869467.1:p.Glu486Ala
XM_017013979.2:c.554A>C	XP_016869468.1:p.Glu185Ala
XM_024447332.1:c.875A>C	XP_024303100.1:p.Glu292Ala
XM_024447333.1:c.473A>C	XP_024303101.1:p.Glu158Ala
NM_145201.6:c.1238A>C MANE Select	NP_660202.3:p.Glu413Ala
NM_001286829.2:c.1238A>C	NP_001273758.1:p.Glu413Ala