Canonical Allele Identifier: CA463375769

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657031G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574861G>A , CM000670.2:g.143574861G>A	GRCh38
NC_000008.10:g.144657031G>A , CM000670.1:g.144657031G>A	GRCh37
NC_000008.9:g.144728174G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1594C>T MANE Select	ENSP00000401508.2:p.Leu532=
ENST00000340490.7:c.1679C>T	ENSP00000341136.3:p.Ser560Phe
ENST00000426292.7:c.1555C>T	ENSP00000390949.3:p.Leu519=
ENST00000435154.7:c.*303C>T	ENSP00000405670.3:n.*303C>T
ENST00000449291.6:c.1594C>T	ENSP00000401508.2:p.Leu532=
ENST00000460623.5:c.618C>T
ENST00000464332.5:n.1138C>T
ENST00000498076.5:n.373C>T
ENST00000529179.1:n.378C>T
NM_001286829.1:c.1555C>T	NP_001273758.1:p.Leu519=
NM_145201.5:c.1594C>T	NP_660202.3:p.Leu532=
XM_011517377.1:c.1331C>T	XP_011515679.1:p.Ser444Phe
NM_001363145.1:c.1513C>T	NP_001350074.1:p.Leu505=
NM_001363146.1:c.910C>T	NP_001350075.1:p.Leu304=
XM_017013975.2:c.1898C>T	XP_016869464.1:p.Ser633Phe
XM_017013976.2:c.1813C>T	XP_016869465.1:p.Leu605=
XM_017013977.2:c.1598C>T	XP_016869466.1:p.Ser533Phe
XM_017013978.2:c.1550C>T	XP_016869467.1:p.Ser517Phe
XM_017013979.2:c.995C>T	XP_016869468.1:p.Ser332Phe
XM_024447332.1:c.968C>T	XP_024303100.1:p.Ser323Phe
XM_024447333.1:c.914C>T	XP_024303101.1:p.Ser305Phe
NM_145201.6:c.1594C>T MANE Select	NP_660202.3:p.Leu532=
NM_001286829.2:c.1555C>T	NP_001273758.1:p.Leu519=