Canonical Allele Identifier: CA585729336

Gene: NAPRT

Linked Data

• dbSNP Id: rs1234081518
• gnomAD v2: 8-144657102-A-G
• gnomAD v4: 8-143574932-A-G
• MyVariant Identifiers: chr8:g.144657102A>G (hg19) ; chr8:g.143574932A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574932A>G , CM000670.2:g.143574932A>G	GRCh38
NC_000008.10:g.144657102A>G , CM000670.1:g.144657102A>G	GRCh37
NC_000008.9:g.144728245A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1555-32T>C MANE Select	ENSP00000401508.2:n.1555-32T>C
ENST00000340490.7:c.1608T>C	ENSP00000341136.3:p.Pro536=
ENST00000426292.7:c.1516-32T>C	ENSP00000390949.3:n.1516-32T>C
ENST00000435154.7:c.*232T>C	ENSP00000405670.3:n.*232T>C
ENST00000449291.6:c.1555-32T>C	ENSP00000401508.2:n.1555-32T>C
ENST00000460623.5:c.547T>C
ENST00000464332.5:n.1099-32T>C
ENST00000498076.5:n.334-32T>C
ENST00000529179.1:n.339-32T>C
NM_001286829.1:c.1516-32T>C	NP_001273758.1:n.1516-32T>C
NM_145201.5:c.1555-32T>C	NP_660202.3:n.1555-32T>C
XM_011517377.1:c.1292-32T>C	XP_011515679.1:n.1292-32T>C
NM_001363145.1:c.1474-32T>C	NP_001350074.1:n.1474-32T>C
NM_001363146.1:c.871-32T>C	NP_001350075.1:n.871-32T>C
XM_017013975.2:c.1827T>C	XP_016869464.1:p.Pro609=
XM_017013976.2:c.1774-32T>C	XP_016869465.1:n.1774-32T>C
XM_017013977.2:c.1527T>C	XP_016869466.1:p.Pro509=
XM_017013978.2:c.1511-32T>C	XP_016869467.1:n.1511-32T>C
XM_017013979.2:c.924T>C	XP_016869468.1:p.Pro308=
XM_024447332.1:c.929-32T>C	XP_024303100.1:n.929-32T>C
XM_024447333.1:c.843T>C	XP_024303101.1:p.Pro281=
NM_145201.6:c.1555-32T>C MANE Select	NP_660202.3:n.1555-32T>C
NM_001286829.2:c.1516-32T>C	NP_001273758.1:n.1516-32T>C