Canonical Allele Identifier: CA114317
Gene: PTS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 477
ClinVar RCV Id: RCV000000506
dbSNP Id: rs104894274

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112226489C>T , CM000673.2:g.112226489C>T GRCh38
NC_000011.9:g.112097212C>T , CM000673.1:g.112097212C>T GRCh37
NC_000011.8:g.111602422C>T NCBI36
NG_008743.1:g.5125C>T

Transcript Alleles

HGVS Amino-acid change
NM_000317.2:c.46C>T VV NP_000308.1:p.Arg16Cys
NM_000317.3:c.46C>T VV MANE Preferred
ENST00000280362.7:c.46C>T ENSP00000280362.3:p.Arg16Cys
ENST00000525645.1:n.121C>T
ENST00000525803.1:c.46C>T ENSP00000431750.1:p.Arg16Cys
ENST00000528679.5:c.46C>T ENSP00000435895.1:p.Arg16Cys
ENST00000531673.5:c.46C>T ENSP00000433469.1:p.Arg16Cys