Canonical Allele Identifier: CA463375805

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143574895-C-T
• MyVariant Identifiers: chr8:g.144657065C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574895C>T , CM000670.2:g.143574895C>T	GRCh38
NC_000008.10:g.144657065C>T , CM000670.1:g.144657065C>T	GRCh37
NC_000008.9:g.144728208C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1560G>A MANE Select	ENSP00000401508.2:p.Val520=
ENST00000340490.7:c.1645G>A	ENSP00000341136.3:p.Ala549Thr
ENST00000426292.7:c.1521G>A	ENSP00000390949.3:p.Val507=
ENST00000435154.7:c.*269G>A	ENSP00000405670.3:n.*269G>A
ENST00000449291.6:c.1560G>A	ENSP00000401508.2:p.Val520=
ENST00000460623.5:c.584G>A
ENST00000464332.5:n.1104G>A
ENST00000498076.5:n.339G>A
ENST00000529179.1:n.344G>A
NM_001286829.1:c.1521G>A	NP_001273758.1:p.Val507=
NM_145201.5:c.1560G>A	NP_660202.3:p.Val520=
XM_011517377.1:c.1297G>A	XP_011515679.1:p.Ala433Thr
NM_001363145.1:c.1479G>A	NP_001350074.1:p.Val493=
NM_001363146.1:c.876G>A	NP_001350075.1:p.Val292=
XM_017013975.2:c.1864G>A	XP_016869464.1:p.Ala622Thr
XM_017013976.2:c.1779G>A	XP_016869465.1:p.Val593=
XM_017013977.2:c.1564G>A	XP_016869466.1:p.Ala522Thr
XM_017013978.2:c.1516G>A	XP_016869467.1:p.Ala506Thr
XM_017013979.2:c.961G>A	XP_016869468.1:p.Ala321Thr
XM_024447332.1:c.934G>A	XP_024303100.1:p.Ala312Thr
XM_024447333.1:c.880G>A	XP_024303101.1:p.Ala294Thr
NM_145201.6:c.1560G>A MANE Select	NP_660202.3:p.Val520=
NM_001286829.2:c.1521G>A	NP_001273758.1:p.Val507=