Canonical Allele Identifier: CA382627530

Gene: PTS

Linked Data

• MyVariant Identifiers: chr11:g.112100939A>G (hg19) ; chr11:g.112230216A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112230216A>G , CM000673.2:g.112230216A>G	GRCh38
NC_000011.9:g.112100939A>G , CM000673.1:g.112100939A>G	GRCh37
NC_000011.8:g.111606149A>G	NCBI36
NG_008743.1:g.8852A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.172A>G MANE Select	ENSP00000280362.3:p.Thr58Ala
ENST00000280362.7:c.172A>G	ENSP00000280362.3:p.Thr58Ala
ENST00000524931.1:c.-33A>G	ENSP00000434688.1:n.-33A>G
ENST00000525803.1:c.163+1543A>G	ENSP00000431750.1:n.163+1543A>G
ENST00000528679.5:c.164-410A>G	ENSP00000435895.1:n.164-410A>G
ENST00000531175.1:n.123A>G
ENST00000531673.5:c.164-410A>G	ENSP00000433469.1:n.164-410A>G
NM_000317.2:c.172A>G	NP_000308.1:p.Thr58Ala
XM_011542943.1:c.133A>G	XP_011541245.1:p.Thr45Ala
NM_000317.3:c.172A>G MANE Select	NP_000308.1:p.Thr58Ala