Canonical Allele Identifier: CA372448611

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657060G>A (hg19) ; chr8:g.143574890G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574890G>A , CM000670.2:g.143574890G>A	GRCh38
NC_000008.10:g.144657060G>A , CM000670.1:g.144657060G>A	GRCh37
NC_000008.9:g.144728203G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1565C>T MANE Select	ENSP00000401508.2:p.Ser522Phe
ENST00000340490.7:c.1650C>T	ENSP00000341136.3:p.Val550=
ENST00000426292.7:c.1526C>T	ENSP00000390949.3:p.Ser509Phe
ENST00000435154.7:c.*274C>T	ENSP00000405670.3:n.*274C>T
ENST00000449291.6:c.1565C>T	ENSP00000401508.2:p.Ser522Phe
ENST00000460623.5:c.589C>T
ENST00000464332.5:n.1109C>T
ENST00000498076.5:n.344C>T
ENST00000529179.1:n.349C>T
NM_001286829.1:c.1526C>T	NP_001273758.1:p.Ser509Phe
NM_145201.5:c.1565C>T	NP_660202.3:p.Ser522Phe
XM_011517377.1:c.1302C>T	XP_011515679.1:p.Val434=
NM_001363145.1:c.1484C>T	NP_001350074.1:p.Ser495Phe
NM_001363146.1:c.881C>T	NP_001350075.1:p.Ser294Phe
XM_017013975.2:c.1869C>T	XP_016869464.1:p.Val623=
XM_017013976.2:c.1784C>T	XP_016869465.1:p.Ser595Phe
XM_017013977.2:c.1569C>T	XP_016869466.1:p.Val523=
XM_017013978.2:c.1521C>T	XP_016869467.1:p.Val507=
XM_017013979.2:c.966C>T	XP_016869468.1:p.Val322=
XM_024447332.1:c.939C>T	XP_024303100.1:p.Val313=
XM_024447333.1:c.885C>T	XP_024303101.1:p.Val295=
NM_145201.6:c.1565C>T MANE Select	NP_660202.3:p.Ser522Phe
NM_001286829.2:c.1526C>T	NP_001273758.1:p.Ser509Phe