Canonical Allele Identifier: CA187546672

Gene: NAPRT

Linked Data

• dbSNP Id: rs993947631
• gnomAD v2: 8-144657095-G-A
• gnomAD v3: 8-143574925-G-A
• gnomAD v4: 8-143574925-G-A
• MyVariant Identifiers: chr8:g.144657095G>A (hg19) ; chr8:g.143574925G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574925G>A , CM000670.2:g.143574925G>A	GRCh38
NC_000008.10:g.144657095G>A , CM000670.1:g.144657095G>A	GRCh37
NC_000008.9:g.144728238G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1555-25C>T MANE Select	ENSP00000401508.2:n.1555-25C>T
ENST00000340490.7:c.1615C>T	ENSP00000341136.3:p.Arg539Cys
ENST00000426292.7:c.1516-25C>T	ENSP00000390949.3:n.1516-25C>T
ENST00000435154.7:c.*239C>T	ENSP00000405670.3:n.*239C>T
ENST00000449291.6:c.1555-25C>T	ENSP00000401508.2:n.1555-25C>T
ENST00000460623.5:c.554C>T
ENST00000464332.5:n.1099-25C>T
ENST00000498076.5:n.334-25C>T
ENST00000529179.1:n.339-25C>T
NM_001286829.1:c.1516-25C>T	NP_001273758.1:n.1516-25C>T
NM_145201.5:c.1555-25C>T	NP_660202.3:n.1555-25C>T
XM_011517377.1:c.1292-25C>T	XP_011515679.1:n.1292-25C>T
NM_001363145.1:c.1474-25C>T	NP_001350074.1:n.1474-25C>T
NM_001363146.1:c.871-25C>T	NP_001350075.1:n.871-25C>T
XM_017013975.2:c.1834C>T	XP_016869464.1:p.Arg612Cys
XM_017013976.2:c.1774-25C>T	XP_016869465.1:n.1774-25C>T
XM_017013977.2:c.1534C>T	XP_016869466.1:p.Arg512Cys
XM_017013978.2:c.1511-25C>T	XP_016869467.1:n.1511-25C>T
XM_017013979.2:c.931C>T	XP_016869468.1:p.Arg311Cys
XM_024447332.1:c.929-25C>T	XP_024303100.1:n.929-25C>T
XM_024447333.1:c.850C>T	XP_024303101.1:p.Arg284Cys
NM_145201.6:c.1555-25C>T MANE Select	NP_660202.3:n.1555-25C>T
NM_001286829.2:c.1516-25C>T	NP_001273758.1:n.1516-25C>T