Canonical Allele Identifier: CA4912586

Gene: NAPRT

Linked Data

• dbSNP Id: rs752666124
• ExAC: 8:144657035 G / A
• gnomAD v2: 8-144657035-G-A
• gnomAD v4: 8-143574865-G-A
• MyVariant Identifiers: chr8:g.144657035G>A (hg19) ; chr8:g.143574865G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574865G>A , CM000670.2:g.143574865G>A	GRCh38
NC_000008.10:g.144657035G>A , CM000670.1:g.144657035G>A	GRCh37
NC_000008.9:g.144728178G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1590C>T MANE Select	ENSP00000401508.2:p.Asn530=
ENST00000340490.7:c.1675C>T	ENSP00000341136.3:p.Gln559Ter
ENST00000426292.7:c.1551C>T	ENSP00000390949.3:p.Asn517=
ENST00000435154.7:c.*299C>T	ENSP00000405670.3:n.*299C>T
ENST00000449291.6:c.1590C>T	ENSP00000401508.2:p.Asn530=
ENST00000460623.5:c.614C>T
ENST00000464332.5:n.1134C>T
ENST00000498076.5:n.369C>T
ENST00000529179.1:n.374C>T
NM_001286829.1:c.1551C>T	NP_001273758.1:p.Asn517=
NM_145201.5:c.1590C>T	NP_660202.3:p.Asn530=
XM_011517377.1:c.1327C>T	XP_011515679.1:p.Gln443Ter
NM_001363145.1:c.1509C>T	NP_001350074.1:p.Asn503=
NM_001363146.1:c.906C>T	NP_001350075.1:p.Asn302=
XM_017013975.2:c.1894C>T	XP_016869464.1:p.Gln632Ter
XM_017013976.2:c.1809C>T	XP_016869465.1:p.Asn603=
XM_017013977.2:c.1594C>T	XP_016869466.1:p.Gln532Ter
XM_017013978.2:c.1546C>T	XP_016869467.1:p.Gln516Ter
XM_017013979.2:c.991C>T	XP_016869468.1:p.Gln331Ter
XM_024447332.1:c.964C>T	XP_024303100.1:p.Gln322Ter
XM_024447333.1:c.910C>T	XP_024303101.1:p.Gln304Ter
NM_145201.6:c.1590C>T MANE Select	NP_660202.3:p.Asn530=
NM_001286829.2:c.1551C>T	NP_001273758.1:p.Asn517=