Canonical Allele Identifier: CA372448503

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657037T>C (hg19) ; chr8:g.143574867T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1588A>G MANE Select	ENSP00000401508.2:p.Asn530Asp
ENST00000340490.7:c.1673A>G	ENSP00000341136.3:p.Glu558Gly
ENST00000426292.7:c.1549A>G	ENSP00000390949.3:p.Asn517Asp
ENST00000435154.7:c.*297A>G	ENSP00000405670.3:n.*297A>G
ENST00000449291.6:c.1588A>G	ENSP00000401508.2:p.Asn530Asp
ENST00000460623.5:c.612A>G
ENST00000464332.5:n.1132A>G
ENST00000498076.5:n.367A>G
ENST00000529179.1:n.372A>G
NM_001286829.1:c.1549A>G	NP_001273758.1:p.Asn517Asp
NM_145201.5:c.1588A>G	NP_660202.3:p.Asn530Asp
XM_011517377.1:c.1325A>G	XP_011515679.1:p.Glu442Gly
NM_001363145.1:c.1507A>G	NP_001350074.1:p.Asn503Asp
NM_001363146.1:c.904A>G	NP_001350075.1:p.Asn302Asp
XM_017013975.2:c.1892A>G	XP_016869464.1:p.Glu631Gly
XM_017013976.2:c.1807A>G	XP_016869465.1:p.Asn603Asp
XM_017013977.2:c.1592A>G	XP_016869466.1:p.Glu531Gly
XM_017013978.2:c.1544A>G	XP_016869467.1:p.Glu515Gly
XM_017013979.2:c.989A>G	XP_016869468.1:p.Glu330Gly
XM_024447332.1:c.962A>G	XP_024303100.1:p.Glu321Gly
XM_024447333.1:c.908A>G	XP_024303101.1:p.Glu303Gly
NM_145201.6:c.1588A>G MANE Select	NP_660202.3:p.Asn530Asp
NM_001286829.2:c.1549A>G	NP_001273758.1:p.Asn517Asp