Canonical Allele Identifier: CA463511586

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143574989-G-A
• MyVariant Identifiers: chr8:g.144657159G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574989G>A , CM000670.2:g.143574989G>A	GRCh38
NC_000008.10:g.144657159G>A , CM000670.1:g.144657159G>A	GRCh37
NC_000008.9:g.144728302G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1551C>T MANE Select	ENSP00000401508.2:p.Tyr517=
ENST00000340490.7:c.1551C>T	ENSP00000341136.3:p.Tyr517=
ENST00000426292.7:c.1512C>T	ENSP00000390949.3:p.Tyr504=
ENST00000435154.7:c.*175C>T	ENSP00000405670.3:n.*175C>T
ENST00000449291.6:c.1551C>T	ENSP00000401508.2:p.Tyr517=
ENST00000460623.5:c.490C>T
ENST00000464332.5:n.1095C>T
ENST00000498076.5:n.330C>T
ENST00000529179.1:n.335C>T
NM_001286829.1:c.1512C>T	NP_001273758.1:p.Tyr504=
NM_145201.5:c.1551C>T	NP_660202.3:p.Tyr517=
XM_011517377.1:c.1292-89C>T	XP_011515679.1:n.1292-89C>T
NM_001363145.1:c.1470C>T	NP_001350074.1:p.Tyr490=
NM_001363146.1:c.867C>T	NP_001350075.1:p.Tyr289=
XM_017013975.2:c.1770C>T	XP_016869464.1:p.Tyr590=
XM_017013976.2:c.1770C>T	XP_016869465.1:p.Tyr590=
XM_017013977.2:c.1470C>T	XP_016869466.1:p.Tyr490=
XM_017013978.2:c.1511-89C>T	XP_016869467.1:n.1511-89C>T
XM_017013979.2:c.867C>T	XP_016869468.1:p.Tyr289=
XM_024447332.1:c.929-89C>T	XP_024303100.1:n.929-89C>T
XM_024447333.1:c.786C>T	XP_024303101.1:p.Tyr262=
NM_145201.6:c.1551C>T MANE Select	NP_660202.3:p.Tyr517=
NM_001286829.2:c.1512C>T	NP_001273758.1:p.Tyr504=