Canonical Allele Identifier: CA585729342

Gene: NAPRT

Linked Data

• dbSNP Id: rs570217505
• gnomAD v2: 8-144657110-G-T
• gnomAD v4: 8-143574940-G-T
• MyVariant Identifiers: chr8:g.144657110G>T (hg19) ; chr8:g.143574940G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574940G>T , CM000670.2:g.143574940G>T	GRCh38
NC_000008.10:g.144657110G>T , CM000670.1:g.144657110G>T	GRCh37
NC_000008.9:g.144728253G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1555-40C>A MANE Select	ENSP00000401508.2:n.1555-40C>A
ENST00000340490.7:c.1600C>A	ENSP00000341136.3:p.Pro534Thr
ENST00000426292.7:c.1516-40C>A	ENSP00000390949.3:n.1516-40C>A
ENST00000435154.7:c.*224C>A	ENSP00000405670.3:n.*224C>A
ENST00000449291.6:c.1555-40C>A	ENSP00000401508.2:n.1555-40C>A
ENST00000460623.5:c.539C>A
ENST00000464332.5:n.1099-40C>A
ENST00000498076.5:n.334-40C>A
ENST00000529179.1:n.339-40C>A
NM_001286829.1:c.1516-40C>A	NP_001273758.1:n.1516-40C>A
NM_145201.5:c.1555-40C>A	NP_660202.3:n.1555-40C>A
XM_011517377.1:c.1292-40C>A	XP_011515679.1:n.1292-40C>A
NM_001363145.1:c.1474-40C>A	NP_001350074.1:n.1474-40C>A
NM_001363146.1:c.871-40C>A	NP_001350075.1:n.871-40C>A
XM_017013975.2:c.1819C>A	XP_016869464.1:p.Pro607Thr
XM_017013976.2:c.1774-40C>A	XP_016869465.1:n.1774-40C>A
XM_017013977.2:c.1519C>A	XP_016869466.1:p.Pro507Thr
XM_017013978.2:c.1511-40C>A	XP_016869467.1:n.1511-40C>A
XM_017013979.2:c.916C>A	XP_016869468.1:p.Pro306Thr
XM_024447332.1:c.929-40C>A	XP_024303100.1:n.929-40C>A
XM_024447333.1:c.835C>A	XP_024303101.1:p.Pro279Thr
NM_145201.6:c.1555-40C>A MANE Select	NP_660202.3:n.1555-40C>A
NM_001286829.2:c.1516-40C>A	NP_001273758.1:n.1516-40C>A