Canonical Allele Identifier: CA187546688

Gene: NAPRT

Linked Data

• dbSNP Id: rs1026392692
• gnomAD v2: 8-144657096-G-A
• gnomAD v4: 8-143574926-G-A
• MyVariant Identifiers: chr8:g.144657096G>A (hg19) ; chr8:g.143574926G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574926G>A , CM000670.2:g.143574926G>A	GRCh38
NC_000008.10:g.144657096G>A , CM000670.1:g.144657096G>A	GRCh37
NC_000008.9:g.144728239G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1555-26C>T MANE Select	ENSP00000401508.2:n.1555-26C>T
ENST00000340490.7:c.1614C>T	ENSP00000341136.3:p.His538=
ENST00000426292.7:c.1516-26C>T	ENSP00000390949.3:n.1516-26C>T
ENST00000435154.7:c.*238C>T	ENSP00000405670.3:n.*238C>T
ENST00000449291.6:c.1555-26C>T	ENSP00000401508.2:n.1555-26C>T
ENST00000460623.5:c.553C>T
ENST00000464332.5:n.1099-26C>T
ENST00000498076.5:n.334-26C>T
ENST00000529179.1:n.339-26C>T
NM_001286829.1:c.1516-26C>T	NP_001273758.1:n.1516-26C>T
NM_145201.5:c.1555-26C>T	NP_660202.3:n.1555-26C>T
XM_011517377.1:c.1292-26C>T	XP_011515679.1:n.1292-26C>T
NM_001363145.1:c.1474-26C>T	NP_001350074.1:n.1474-26C>T
NM_001363146.1:c.871-26C>T	NP_001350075.1:n.871-26C>T
XM_017013975.2:c.1833C>T	XP_016869464.1:p.His611=
XM_017013976.2:c.1774-26C>T	XP_016869465.1:n.1774-26C>T
XM_017013977.2:c.1533C>T	XP_016869466.1:p.His511=
XM_017013978.2:c.1511-26C>T	XP_016869467.1:n.1511-26C>T
XM_017013979.2:c.930C>T	XP_016869468.1:p.His310=
XM_024447332.1:c.929-26C>T	XP_024303100.1:n.929-26C>T
XM_024447333.1:c.849C>T	XP_024303101.1:p.His283=
NM_145201.6:c.1555-26C>T MANE Select	NP_660202.3:n.1555-26C>T
NM_001286829.2:c.1516-26C>T	NP_001273758.1:n.1516-26C>T