Canonical Allele Identifier: CA372449750

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143575199-G-T
• MyVariant Identifiers: chr8:g.144657369G>T (hg19) ; chr8:g.143575199G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575199G>T , CM000670.2:g.143575199G>T	GRCh38
NC_000008.10:g.144657369G>T , CM000670.1:g.144657369G>T	GRCh37
NC_000008.9:g.144728512G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1438C>A MANE Select	ENSP00000401508.2:p.Gln480Lys
ENST00000340490.7:c.1438C>A	ENSP00000341136.3:p.Gln480Lys
ENST00000426292.7:c.1407+31C>A	ENSP00000390949.3:n.1407+31C>A
ENST00000435154.7:c.1438C>A	ENSP00000405670.3:p.Gln480Lys
ENST00000449291.6:c.1438C>A	ENSP00000401508.2:p.Gln480Lys
ENST00000460623.5:c.385+31C>A
ENST00000464332.5:n.982C>A
ENST00000498076.5:n.217C>A
ENST00000529179.1:n.125C>A
NM_001286829.1:c.1407+31C>A	NP_001273758.1:n.1407+31C>A
NM_145201.5:c.1438C>A	NP_660202.3:p.Gln480Lys
XM_011517377.1:c.1291+224C>A	XP_011515679.1:n.1291+224C>A
NM_001363145.1:c.1357C>A	NP_001350074.1:p.Gln453Lys
NM_001363146.1:c.754C>A	NP_001350075.1:p.Gln252Lys
XM_017013975.2:c.1657C>A	XP_016869464.1:p.Gln553Lys
XM_017013976.2:c.1657C>A	XP_016869465.1:p.Gln553Lys
XM_017013977.2:c.1357C>A	XP_016869466.1:p.Gln453Lys
XM_017013978.2:c.1510+224C>A	XP_016869467.1:n.1510+224C>A
XM_017013979.2:c.754C>A	XP_016869468.1:p.Gln252Lys
XM_024447332.1:c.928+224C>A	XP_024303100.1:n.928+224C>A
XM_024447333.1:c.673C>A	XP_024303101.1:p.Gln225Lys
NM_145201.6:c.1438C>A MANE Select	NP_660202.3:p.Gln480Lys
NM_001286829.2:c.1407+31C>A	NP_001273758.1:n.1407+31C>A