Canonical Allele Identifier: CA372450338

Gene: NAPRT

Linked Data

• dbSNP Id: rs1235144937
• gnomAD v2: 8-144657501-C-T
• gnomAD v4: 8-143575331-C-T
• MyVariant Identifiers: chr8:g.144657501C>T (hg19) ; chr8:g.143575331C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575331C>T , CM000670.2:g.143575331C>T	GRCh38
NC_000008.10:g.144657501C>T , CM000670.1:g.144657501C>T	GRCh37
NC_000008.9:g.144728644C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1306G>A MANE Select	ENSP00000401508.2:p.Asp436Asn
ENST00000340490.7:c.1306G>A	ENSP00000341136.3:p.Asp436Asn
ENST00000426292.7:c.1306G>A	ENSP00000390949.3:p.Asp436Asn
ENST00000435154.7:c.1306G>A	ENSP00000405670.3:p.Asp436Asn
ENST00000449291.6:c.1306G>A	ENSP00000401508.2:p.Asp436Asn
ENST00000460623.5:c.284G>A
ENST00000464332.5:n.850G>A
ENST00000498076.5:n.85G>A
NM_001286829.1:c.1306G>A	NP_001273758.1:p.Asp436Asn
NM_145201.5:c.1306G>A	NP_660202.3:p.Asp436Asn
XM_011517377.1:c.1291+92G>A	XP_011515679.1:n.1291+92G>A
NM_001363145.1:c.1225G>A	NP_001350074.1:p.Asp409Asn
NM_001363146.1:c.622G>A	NP_001350075.1:p.Asp208Asn
XM_017013975.2:c.1525G>A	XP_016869464.1:p.Asp509Asn
XM_017013976.2:c.1525G>A	XP_016869465.1:p.Asp509Asn
XM_017013977.2:c.1225G>A	XP_016869466.1:p.Asp409Asn
XM_017013978.2:c.1510+92G>A	XP_016869467.1:n.1510+92G>A
XM_017013979.2:c.622G>A	XP_016869468.1:p.Asp208Asn
XM_024447332.1:c.928+92G>A	XP_024303100.1:n.928+92G>A
XM_024447333.1:c.541G>A	XP_024303101.1:p.Asp181Asn
NM_145201.6:c.1306G>A MANE Select	NP_660202.3:p.Asp436Asn
NM_001286829.2:c.1306G>A	NP_001273758.1:p.Asp436Asn