Canonical Allele Identifier: CA372448564

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657049G>T (hg19) ; chr8:g.143574879G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574879G>T , CM000670.2:g.143574879G>T	GRCh38
NC_000008.10:g.144657049G>T , CM000670.1:g.144657049G>T	GRCh37
NC_000008.9:g.144728192G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1576C>A MANE Select	ENSP00000401508.2:p.Gln526Lys
ENST00000340490.7:c.1661C>A	ENSP00000341136.3:p.Ala554Glu
ENST00000426292.7:c.1537C>A	ENSP00000390949.3:p.Gln513Lys
ENST00000435154.7:c.*285C>A	ENSP00000405670.3:n.*285C>A
ENST00000449291.6:c.1576C>A	ENSP00000401508.2:p.Gln526Lys
ENST00000460623.5:c.600C>A
ENST00000464332.5:n.1120C>A
ENST00000498076.5:n.355C>A
ENST00000529179.1:n.360C>A
NM_001286829.1:c.1537C>A	NP_001273758.1:p.Gln513Lys
NM_145201.5:c.1576C>A	NP_660202.3:p.Gln526Lys
XM_011517377.1:c.1313C>A	XP_011515679.1:p.Ala438Glu
NM_001363145.1:c.1495C>A	NP_001350074.1:p.Gln499Lys
NM_001363146.1:c.892C>A	NP_001350075.1:p.Gln298Lys
XM_017013975.2:c.1880C>A	XP_016869464.1:p.Ala627Glu
XM_017013976.2:c.1795C>A	XP_016869465.1:p.Gln599Lys
XM_017013977.2:c.1580C>A	XP_016869466.1:p.Ala527Glu
XM_017013978.2:c.1532C>A	XP_016869467.1:p.Ala511Glu
XM_017013979.2:c.977C>A	XP_016869468.1:p.Ala326Glu
XM_024447332.1:c.950C>A	XP_024303100.1:p.Ala317Glu
XM_024447333.1:c.896C>A	XP_024303101.1:p.Ala299Glu
NM_145201.6:c.1576C>A MANE Select	NP_660202.3:p.Gln526Lys
NM_001286829.2:c.1537C>A	NP_001273758.1:p.Gln513Lys