Canonical Allele Identifier: CA372450931
Gene: NAPRT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143575456T>A , CM000670.2:g.143575456T>A GRCh38
NC_000008.10:g.144657626T>A , CM000670.1:g.144657626T>A GRCh37
NC_000008.9:g.144728769T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000449291.7:c.1258A>T MANE Select ENSP00000401508.2:p.Ser420Cys
ENST00000340490.7:c.1258A>T ENSP00000341136.3:p.Ser420Cys
ENST00000426292.7:c.1258A>T ENSP00000390949.3:p.Ser420Cys
ENST00000435154.7:c.1258A>T ENSP00000405670.3:p.Ser420Cys
ENST00000449291.6:c.1258A>T ENSP00000401508.2:p.Ser420Cys
ENST00000460623.5:c.236A>T
ENST00000464332.5:n.802A>T
ENST00000525583.5:c.1042A>T
NM_001286829.1:c.1258A>T NP_001273758.1:p.Ser420Cys
NM_145201.5:c.1258A>T NP_660202.3:p.Ser420Cys
XM_011517377.1:c.1258A>T XP_011515679.1:p.Ser420Cys
NM_001363145.1:c.1177A>T NP_001350074.1:p.Ser393Cys
NM_001363146.1:c.574A>T NP_001350075.1:p.Ser192Cys
XM_017013975.2:c.1477A>T XP_016869464.1:p.Ser493Cys
XM_017013976.2:c.1477A>T XP_016869465.1:p.Ser493Cys
XM_017013977.2:c.1177A>T XP_016869466.1:p.Ser393Cys
XM_017013978.2:c.1477A>T XP_016869467.1:p.Ser493Cys
XM_017013979.2:c.574A>T XP_016869468.1:p.Ser192Cys
XM_024447332.1:c.895A>T XP_024303100.1:p.Ser299Cys
XM_024447333.1:c.493A>T XP_024303101.1:p.Ser165Cys
NM_145201.6:c.1258A>T MANE Select NP_660202.3:p.Ser420Cys
NM_001286829.2:c.1258A>T NP_001273758.1:p.Ser420Cys