Canonical Allele Identifier: CA372448486

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657034T>A (hg19) ; chr8:g.143574864T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574864T>A , CM000670.2:g.143574864T>A	GRCh38
NC_000008.10:g.144657034T>A , CM000670.1:g.144657034T>A	GRCh37
NC_000008.9:g.144728177T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1591A>T MANE Select	ENSP00000401508.2:p.Ser531Cys
ENST00000340490.7:c.1676A>T	ENSP00000341136.3:p.Gln559Leu
ENST00000426292.7:c.1552A>T	ENSP00000390949.3:p.Ser518Cys
ENST00000435154.7:c.*300A>T	ENSP00000405670.3:n.*300A>T
ENST00000449291.6:c.1591A>T	ENSP00000401508.2:p.Ser531Cys
ENST00000460623.5:c.615A>T
ENST00000464332.5:n.1135A>T
ENST00000498076.5:n.370A>T
ENST00000529179.1:n.375A>T
NM_001286829.1:c.1552A>T	NP_001273758.1:p.Ser518Cys
NM_145201.5:c.1591A>T	NP_660202.3:p.Ser531Cys
XM_011517377.1:c.1328A>T	XP_011515679.1:p.Gln443Leu
NM_001363145.1:c.1510A>T	NP_001350074.1:p.Ser504Cys
NM_001363146.1:c.907A>T	NP_001350075.1:p.Ser303Cys
XM_017013975.2:c.1895A>T	XP_016869464.1:p.Gln632Leu
XM_017013976.2:c.1810A>T	XP_016869465.1:p.Ser604Cys
XM_017013977.2:c.1595A>T	XP_016869466.1:p.Gln532Leu
XM_017013978.2:c.1547A>T	XP_016869467.1:p.Gln516Leu
XM_017013979.2:c.992A>T	XP_016869468.1:p.Gln331Leu
XM_024447332.1:c.965A>T	XP_024303100.1:p.Gln322Leu
XM_024447333.1:c.911A>T	XP_024303101.1:p.Gln304Leu
NM_145201.6:c.1591A>T MANE Select	NP_660202.3:p.Ser531Cys
NM_001286829.2:c.1552A>T	NP_001273758.1:p.Ser518Cys