Canonical Allele Identifier: CA382627058
Gene: PTS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112228637T>C , CM000673.2:g.112228637T>C GRCh38
NC_000011.9:g.112099360T>C , CM000673.1:g.112099360T>C GRCh37
NC_000011.8:g.111604570T>C NCBI36
NG_008743.1:g.7273T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000280362.8:c.127T>C MANE Select ENSP00000280362.3:p.Cys43Arg
ENST00000280362.7:c.127T>C ENSP00000280362.3:p.Cys43Arg
ENST00000524931.1:c.-78T>C ENSP00000434688.1:n.-78T>C
ENST00000525645.1:n.202T>C
ENST00000525803.1:c.127T>C ENSP00000431750.1:p.Cys43Arg
ENST00000528679.5:c.127T>C ENSP00000435895.1:p.Cys43Arg
ENST00000531673.5:c.127T>C ENSP00000433469.1:p.Cys43Arg
NM_000317.2:c.127T>C NP_000308.1:p.Cys43Arg
NM_000317.3:c.127T>C MANE Select NP_000308.1:p.Cys43Arg