Canonical Allele Identifier: CA372448502

Gene: NAPRT

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1588A>T MANE Select	ENSP00000401508.2:p.Asn530Tyr
ENST00000340490.7:c.1673A>T	ENSP00000341136.3:p.Glu558Val
ENST00000426292.7:c.1549A>T	ENSP00000390949.3:p.Asn517Tyr
ENST00000435154.7:c.*297A>T	ENSP00000405670.3:n.*297A>T
ENST00000449291.6:c.1588A>T	ENSP00000401508.2:p.Asn530Tyr
ENST00000460623.5:c.612A>T
ENST00000464332.5:n.1132A>T
ENST00000498076.5:n.367A>T
ENST00000529179.1:n.372A>T
NM_001286829.1:c.1549A>T	NP_001273758.1:p.Asn517Tyr
NM_145201.5:c.1588A>T	NP_660202.3:p.Asn530Tyr
XM_011517377.1:c.1325A>T	XP_011515679.1:p.Glu442Val
NM_001363145.1:c.1507A>T	NP_001350074.1:p.Asn503Tyr
NM_001363146.1:c.904A>T	NP_001350075.1:p.Asn302Tyr
XM_017013975.2:c.1892A>T	XP_016869464.1:p.Glu631Val
XM_017013976.2:c.1807A>T	XP_016869465.1:p.Asn603Tyr
XM_017013977.2:c.1592A>T	XP_016869466.1:p.Glu531Val
XM_017013978.2:c.1544A>T	XP_016869467.1:p.Glu515Val
XM_017013979.2:c.989A>T	XP_016869468.1:p.Glu330Val
XM_024447332.1:c.962A>T	XP_024303100.1:p.Glu321Val
XM_024447333.1:c.908A>T	XP_024303101.1:p.Glu303Val
NM_145201.6:c.1588A>T MANE Select	NP_660202.3:p.Asn530Tyr
NM_001286829.2:c.1549A>T	NP_001273758.1:p.Asn517Tyr