Canonical Allele Identifier: CA2000618358
Gene: PTS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112230211T= , CM000673.2:g.112230211T= GRCh38
NC_000011.9:g.112100934T= , CM000673.1:g.112100934T= GRCh37
NC_000011.8:g.111606144T= NCBI36
NG_008743.1:g.8847T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000280362.8:c.167T= MANE Select ENSP00000280362.3:p.Val56=
ENST00000280362.7:c.167T= ENSP00000280362.3:p.Val56=
ENST00000524931.1:c.-38T= ENSP00000434688.1:n.-38T=
ENST00000525803.1:c.163+1538T= ENSP00000431750.1:n.163+1538T=
ENST00000528679.5:c.164-415T= ENSP00000435895.1:n.164-415T=
ENST00000531175.1:n.118T=
ENST00000531673.5:c.164-415T= ENSP00000433469.1:n.164-415T=
NM_000317.2:c.167T= NP_000308.1:p.Val56=
XM_011542943.1:c.128T= XP_011541245.1:p.Val43=
NM_000317.3:c.167T= MANE Select NP_000308.1:p.Val56=