Canonical Allele Identifier: CA463511694

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143575070-C-A
• MyVariant Identifiers: chr8:g.144657240C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575070C>A , CM000670.2:g.143575070C>A	GRCh38
NC_000008.10:g.144657240C>A , CM000670.1:g.144657240C>A	GRCh37
NC_000008.9:g.144728383C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1470G>T MANE Select	ENSP00000401508.2:p.Leu490=
ENST00000340490.7:c.1470G>T	ENSP00000341136.3:p.Leu490=
ENST00000426292.7:c.1431G>T	ENSP00000390949.3:p.Leu477=
ENST00000435154.7:c.*94G>T	ENSP00000405670.3:n.*94G>T
ENST00000449291.6:c.1470G>T	ENSP00000401508.2:p.Leu490=
ENST00000460623.5:c.409G>T
ENST00000464332.5:n.1014G>T
ENST00000498076.5:n.249G>T
ENST00000529179.1:n.254G>T
NM_001286829.1:c.1431G>T	NP_001273758.1:p.Leu477=
NM_145201.5:c.1470G>T	NP_660202.3:p.Leu490=
XM_011517377.1:c.1292-170G>T	XP_011515679.1:n.1292-170G>T
NM_001363145.1:c.1389G>T	NP_001350074.1:p.Leu463=
NM_001363146.1:c.786G>T	NP_001350075.1:p.Leu262=
XM_017013975.2:c.1689G>T	XP_016869464.1:p.Leu563=
XM_017013976.2:c.1689G>T	XP_016869465.1:p.Leu563=
XM_017013977.2:c.1389G>T	XP_016869466.1:p.Leu463=
XM_017013978.2:c.1511-170G>T	XP_016869467.1:n.1511-170G>T
XM_017013979.2:c.786G>T	XP_016869468.1:p.Leu262=
XM_024447332.1:c.929-170G>T	XP_024303100.1:n.929-170G>T
XM_024447333.1:c.705G>T	XP_024303101.1:p.Leu235=
NM_145201.6:c.1470G>T MANE Select	NP_660202.3:p.Leu490=
NM_001286829.2:c.1431G>T	NP_001273758.1:p.Leu477=