Canonical Allele Identifier: CA463375810

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657068C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574898C>A , CM000670.2:g.143574898C>A	GRCh38
NC_000008.10:g.144657068C>A , CM000670.1:g.144657068C>A	GRCh37
NC_000008.9:g.144728211C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1557G>T MANE Select	ENSP00000401508.2:p.Val519=
ENST00000340490.7:c.1642G>T	ENSP00000341136.3:p.Gly548Cys
ENST00000426292.7:c.1518G>T	ENSP00000390949.3:p.Val506=
ENST00000435154.7:c.*266G>T	ENSP00000405670.3:n.*266G>T
ENST00000449291.6:c.1557G>T	ENSP00000401508.2:p.Val519=
ENST00000460623.5:c.581G>T
ENST00000464332.5:n.1101G>T
ENST00000498076.5:n.336G>T
ENST00000529179.1:n.341G>T
NM_001286829.1:c.1518G>T	NP_001273758.1:p.Val506=
NM_145201.5:c.1557G>T	NP_660202.3:p.Val519=
XM_011517377.1:c.1294G>T	XP_011515679.1:p.Gly432Cys
NM_001363145.1:c.1476G>T	NP_001350074.1:p.Val492=
NM_001363146.1:c.873G>T	NP_001350075.1:p.Val291=
XM_017013975.2:c.1861G>T	XP_016869464.1:p.Gly621Cys
XM_017013976.2:c.1776G>T	XP_016869465.1:p.Val592=
XM_017013977.2:c.1561G>T	XP_016869466.1:p.Gly521Cys
XM_017013978.2:c.1513G>T	XP_016869467.1:p.Gly505Cys
XM_017013979.2:c.958G>T	XP_016869468.1:p.Gly320Cys
XM_024447332.1:c.931G>T	XP_024303100.1:p.Gly311Cys
XM_024447333.1:c.877G>T	XP_024303101.1:p.Gly293Cys
NM_145201.6:c.1557G>T MANE Select	NP_660202.3:p.Val519=
NM_001286829.2:c.1518G>T	NP_001273758.1:p.Val506=