Canonical Allele Identifier: CA372448504

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143574867-T-G
• MyVariant Identifiers: chr8:g.144657037T>G (hg19) ; chr8:g.143574867T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574867T>G , CM000670.2:g.143574867T>G	GRCh38
NC_000008.10:g.144657037T>G , CM000670.1:g.144657037T>G	GRCh37
NC_000008.9:g.144728180T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1588A>C MANE Select	ENSP00000401508.2:p.Asn530His
ENST00000340490.7:c.1673A>C	ENSP00000341136.3:p.Glu558Ala
ENST00000426292.7:c.1549A>C	ENSP00000390949.3:p.Asn517His
ENST00000435154.7:c.*297A>C	ENSP00000405670.3:n.*297A>C
ENST00000449291.6:c.1588A>C	ENSP00000401508.2:p.Asn530His
ENST00000460623.5:c.612A>C
ENST00000464332.5:n.1132A>C
ENST00000498076.5:n.367A>C
ENST00000529179.1:n.372A>C
NM_001286829.1:c.1549A>C	NP_001273758.1:p.Asn517His
NM_145201.5:c.1588A>C	NP_660202.3:p.Asn530His
XM_011517377.1:c.1325A>C	XP_011515679.1:p.Glu442Ala
NM_001363145.1:c.1507A>C	NP_001350074.1:p.Asn503His
NM_001363146.1:c.904A>C	NP_001350075.1:p.Asn302His
XM_017013975.2:c.1892A>C	XP_016869464.1:p.Glu631Ala
XM_017013976.2:c.1807A>C	XP_016869465.1:p.Asn603His
XM_017013977.2:c.1592A>C	XP_016869466.1:p.Glu531Ala
XM_017013978.2:c.1544A>C	XP_016869467.1:p.Glu515Ala
XM_017013979.2:c.989A>C	XP_016869468.1:p.Glu330Ala
XM_024447332.1:c.962A>C	XP_024303100.1:p.Glu321Ala
XM_024447333.1:c.908A>C	XP_024303101.1:p.Glu303Ala
NM_145201.6:c.1588A>C MANE Select	NP_660202.3:p.Asn530His
NM_001286829.2:c.1549A>C	NP_001273758.1:p.Asn517His