Canonical Allele Identifier: CA372449341

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143575078-G-C
• MyVariant Identifiers: chr8:g.144657248G>C (hg19) ; chr8:g.143575078G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575078G>C , CM000670.2:g.143575078G>C	GRCh38
NC_000008.10:g.144657248G>C , CM000670.1:g.144657248G>C	GRCh37
NC_000008.9:g.144728391G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1462C>G MANE Select	ENSP00000401508.2:p.Pro488Ala
ENST00000340490.7:c.1462C>G	ENSP00000341136.3:p.Pro488Ala
ENST00000426292.7:c.1423C>G	ENSP00000390949.3:p.Pro475Ala
ENST00000435154.7:c.*86C>G	ENSP00000405670.3:n.*86C>G
ENST00000449291.6:c.1462C>G	ENSP00000401508.2:p.Pro488Ala
ENST00000460623.5:c.401C>G
ENST00000464332.5:n.1006C>G
ENST00000498076.5:n.241C>G
ENST00000529179.1:n.246C>G
NM_001286829.1:c.1423C>G	NP_001273758.1:p.Pro475Ala
NM_145201.5:c.1462C>G	NP_660202.3:p.Pro488Ala
XM_011517377.1:c.1292-178C>G	XP_011515679.1:n.1292-178C>G
NM_001363145.1:c.1381C>G	NP_001350074.1:p.Pro461Ala
NM_001363146.1:c.778C>G	NP_001350075.1:p.Pro260Ala
XM_017013975.2:c.1681C>G	XP_016869464.1:p.Pro561Ala
XM_017013976.2:c.1681C>G	XP_016869465.1:p.Pro561Ala
XM_017013977.2:c.1381C>G	XP_016869466.1:p.Pro461Ala
XM_017013978.2:c.1511-178C>G	XP_016869467.1:n.1511-178C>G
XM_017013979.2:c.778C>G	XP_016869468.1:p.Pro260Ala
XM_024447332.1:c.929-178C>G	XP_024303100.1:n.929-178C>G
XM_024447333.1:c.697C>G	XP_024303101.1:p.Pro233Ala
NM_145201.6:c.1462C>G MANE Select	NP_660202.3:p.Pro488Ala
NM_001286829.2:c.1423C>G	NP_001273758.1:p.Pro475Ala