Canonical Allele Identifier: CA463511643

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143575031-T-C
• MyVariant Identifiers: chr8:g.144657201T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575031T>C , CM000670.2:g.143575031T>C	GRCh38
NC_000008.10:g.144657201T>C , CM000670.1:g.144657201T>C	GRCh37
NC_000008.9:g.144728344T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1509A>G MANE Select	ENSP00000401508.2:p.Arg503=
ENST00000340490.7:c.1509A>G	ENSP00000341136.3:p.Arg503=
ENST00000426292.7:c.1470A>G	ENSP00000390949.3:p.Arg490=
ENST00000435154.7:c.*133A>G	ENSP00000405670.3:n.*133A>G
ENST00000449291.6:c.1509A>G	ENSP00000401508.2:p.Arg503=
ENST00000460623.5:c.448A>G
ENST00000464332.5:n.1053A>G
ENST00000498076.5:n.288A>G
ENST00000529179.1:n.293A>G
NM_001286829.1:c.1470A>G	NP_001273758.1:p.Arg490=
NM_145201.5:c.1509A>G	NP_660202.3:p.Arg503=
XM_011517377.1:c.1292-131A>G	XP_011515679.1:n.1292-131A>G
NM_001363145.1:c.1428A>G	NP_001350074.1:p.Arg476=
NM_001363146.1:c.825A>G	NP_001350075.1:p.Arg275=
XM_017013975.2:c.1728A>G	XP_016869464.1:p.Arg576=
XM_017013976.2:c.1728A>G	XP_016869465.1:p.Arg576=
XM_017013977.2:c.1428A>G	XP_016869466.1:p.Arg476=
XM_017013978.2:c.1511-131A>G	XP_016869467.1:n.1511-131A>G
XM_017013979.2:c.825A>G	XP_016869468.1:p.Arg275=
XM_024447332.1:c.929-131A>G	XP_024303100.1:n.929-131A>G
XM_024447333.1:c.744A>G	XP_024303101.1:p.Arg248=
NM_145201.6:c.1509A>G MANE Select	NP_660202.3:p.Arg503=
NM_001286829.2:c.1470A>G	NP_001273758.1:p.Arg490=