Canonical Allele Identifier: CA2688942951

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143574980-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574980C>G , CM000670.2:g.143574980C>G	GRCh38
NC_000008.10:g.144657150C>G , CM000670.1:g.144657150C>G	GRCh37
NC_000008.9:g.144728293C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1554+6G>C MANE Select	ENSP00000401508.2:n.1554+6G>C
ENST00000340490.7:c.1560G>C	ENSP00000341136.3:p.Gly520=
ENST00000426292.7:c.1515+6G>C	ENSP00000390949.3:n.1515+6G>C
ENST00000435154.7:c.*184G>C	ENSP00000405670.3:n.*184G>C
ENST00000449291.6:c.1554+6G>C	ENSP00000401508.2:n.1554+6G>C
ENST00000460623.5:c.499G>C
ENST00000464332.5:n.1098+6G>C
ENST00000498076.5:n.333+6G>C
ENST00000529179.1:n.338+6G>C
NM_001286829.1:c.1515+6G>C	NP_001273758.1:n.1515+6G>C
NM_145201.5:c.1554+6G>C	NP_660202.3:n.1554+6G>C
XM_011517377.1:c.1292-80G>C	XP_011515679.1:n.1292-80G>C
NM_001363145.1:c.1473+6G>C	NP_001350074.1:n.1473+6G>C
NM_001363146.1:c.870+6G>C	NP_001350075.1:n.870+6G>C
XM_017013975.2:c.1779G>C	XP_016869464.1:p.Gly593=
XM_017013976.2:c.1773+6G>C	XP_016869465.1:n.1773+6G>C
XM_017013977.2:c.1479G>C	XP_016869466.1:p.Gly493=
XM_017013978.2:c.1511-80G>C	XP_016869467.1:n.1511-80G>C
XM_017013979.2:c.876G>C	XP_016869468.1:p.Gly292=
XM_024447332.1:c.929-80G>C	XP_024303100.1:n.929-80G>C
XM_024447333.1:c.795G>C	XP_024303101.1:p.Gly265=
NM_145201.6:c.1554+6G>C MANE Select	NP_660202.3:n.1554+6G>C
NM_001286829.2:c.1515+6G>C	NP_001273758.1:n.1515+6G>C