Canonical Allele Identifier: CA6278559

Gene: PTS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233178C>G , CM000673.2:g.112233178C>G	GRCh38
NC_000011.9:g.112103901C>G , CM000673.1:g.112103901C>G	GRCh37
NC_000011.8:g.111609111C>G	NCBI36
NG_008743.1:g.11814C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000317.3:c.259C>G MANE Select	NP_000308.1:p.Pro87Ala
ENST00000280362.8:c.259C>G MANE Select	ENSP00000280362.3:p.Pro87Ala
NM_000317.2:c.259C>G	NP_000308.1:p.Pro87Ala
ENST00000280362.7:c.259C>G	ENSP00000280362.3:p.Pro87Ala
ENST00000524931.1:c.55C>G	ENSP00000434688.1:p.Pro19Ala
ENST00000525803.1:c.179C>G	ENSP00000431750.1:p.Ala60Gly
ENST00000527428.5:n.433C>G
ENST00000527635.1:n.300C>G
ENST00000528679.5:c.*68C>G	ENSP00000435895.1:n.*68C>G
ENST00000531175.1:n.210C>G
ENST00000531673.5:c.*68C>G	ENSP00000433469.1:n.*68C>G
XM_011542943.1:c.220C>G	XP_011541245.1:p.Pro74Ala