Canonical Allele Identifier: CA382626967
Gene: PTS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112228610G>C , CM000673.2:g.112228610G>C GRCh38
NC_000011.9:g.112099333G>C , CM000673.1:g.112099333G>C GRCh37
NC_000011.8:g.111604543G>C NCBI36
NG_008743.1:g.7246G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000280362.8:c.100G>C MANE Select ENSP00000280362.3:p.Glu34Gln
ENST00000280362.7:c.100G>C ENSP00000280362.3:p.Glu34Gln
ENST00000524931.1:c.-105G>C ENSP00000434688.1:n.-105G>C
ENST00000525645.1:n.175G>C
ENST00000525803.1:c.100G>C ENSP00000431750.1:p.Glu34Gln
ENST00000528679.5:c.100G>C ENSP00000435895.1:p.Glu34Gln
ENST00000531673.5:c.100G>C ENSP00000433469.1:p.Glu34Gln
NM_000317.2:c.100G>C NP_000308.1:p.Glu34Gln
NM_000317.3:c.100G>C MANE Select NP_000308.1:p.Glu34Gln