Canonical Allele Identifier: CA372450148

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657465C>G (hg19) ; chr8:g.143575295C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575295C>G , CM000670.2:g.143575295C>G	GRCh38
NC_000008.10:g.144657465C>G , CM000670.1:g.144657465C>G	GRCh37
NC_000008.9:g.144728608C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1342G>C MANE Select	ENSP00000401508.2:p.Ala448Pro
ENST00000340490.7:c.1342G>C	ENSP00000341136.3:p.Ala448Pro
ENST00000426292.7:c.1342G>C	ENSP00000390949.3:p.Ala448Pro
ENST00000435154.7:c.1342G>C	ENSP00000405670.3:p.Ala448Pro
ENST00000449291.6:c.1342G>C	ENSP00000401508.2:p.Ala448Pro
ENST00000460623.5:c.320G>C
ENST00000464332.5:n.886G>C
ENST00000498076.5:n.121G>C
ENST00000529179.1:n.29G>C
NM_001286829.1:c.1342G>C	NP_001273758.1:p.Ala448Pro
NM_145201.5:c.1342G>C	NP_660202.3:p.Ala448Pro
XM_011517377.1:c.1291+128G>C	XP_011515679.1:n.1291+128G>C
NM_001363145.1:c.1261G>C	NP_001350074.1:p.Ala421Pro
NM_001363146.1:c.658G>C	NP_001350075.1:p.Ala220Pro
XM_017013975.2:c.1561G>C	XP_016869464.1:p.Ala521Pro
XM_017013976.2:c.1561G>C	XP_016869465.1:p.Ala521Pro
XM_017013977.2:c.1261G>C	XP_016869466.1:p.Ala421Pro
XM_017013978.2:c.1510+128G>C	XP_016869467.1:n.1510+128G>C
XM_017013979.2:c.658G>C	XP_016869468.1:p.Ala220Pro
XM_024447332.1:c.928+128G>C	XP_024303100.1:n.928+128G>C
XM_024447333.1:c.577G>C	XP_024303101.1:p.Ala193Pro
NM_145201.6:c.1342G>C MANE Select	NP_660202.3:p.Ala448Pro
NM_001286829.2:c.1342G>C	NP_001273758.1:p.Ala448Pro