Canonical Allele Identifier: CA372448978

Gene: NAPRT

Linked Data

• dbSNP Id: rs1824329331
• gnomAD v3: 8-143575041-G-C
• gnomAD v4: 8-143575041-G-C
• MyVariant Identifiers: chr8:g.144657211G>C (hg19) ; chr8:g.143575041G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575041G>C , CM000670.2:g.143575041G>C	GRCh38
NC_000008.10:g.144657211G>C , CM000670.1:g.144657211G>C	GRCh37
NC_000008.9:g.144728354G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1499C>G MANE Select	ENSP00000401508.2:p.Ser500Cys
ENST00000340490.7:c.1499C>G	ENSP00000341136.3:p.Ser500Cys
ENST00000426292.7:c.1460C>G	ENSP00000390949.3:p.Ser487Cys
ENST00000435154.7:c.*123C>G	ENSP00000405670.3:n.*123C>G
ENST00000449291.6:c.1499C>G	ENSP00000401508.2:p.Ser500Cys
ENST00000460623.5:c.438C>G
ENST00000464332.5:n.1043C>G
ENST00000498076.5:n.278C>G
ENST00000529179.1:n.283C>G
NM_001286829.1:c.1460C>G	NP_001273758.1:p.Ser487Cys
NM_145201.5:c.1499C>G	NP_660202.3:p.Ser500Cys
XM_011517377.1:c.1292-141C>G	XP_011515679.1:n.1292-141C>G
NM_001363145.1:c.1418C>G	NP_001350074.1:p.Ser473Cys
NM_001363146.1:c.815C>G	NP_001350075.1:p.Ser272Cys
XM_017013975.2:c.1718C>G	XP_016869464.1:p.Ser573Cys
XM_017013976.2:c.1718C>G	XP_016869465.1:p.Ser573Cys
XM_017013977.2:c.1418C>G	XP_016869466.1:p.Ser473Cys
XM_017013978.2:c.1511-141C>G	XP_016869467.1:n.1511-141C>G
XM_017013979.2:c.815C>G	XP_016869468.1:p.Ser272Cys
XM_024447332.1:c.929-141C>G	XP_024303100.1:n.929-141C>G
XM_024447333.1:c.734C>G	XP_024303101.1:p.Ser245Cys
NM_145201.6:c.1499C>G MANE Select	NP_660202.3:p.Ser500Cys
NM_001286829.2:c.1460C>G	NP_001273758.1:p.Ser487Cys