Canonical Allele Identifier: CA2616001622

Gene: PTS

Linked Data

• gnomAD v4: 11-112233366-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233366T>A , CM000673.2:g.112233366T>A	GRCh38
NC_000011.9:g.112104089T>A , CM000673.1:g.112104089T>A	GRCh37
NC_000011.8:g.111609299T>A	NCBI36
NG_008743.1:g.12002T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.315-66T>A MANE Select	ENSP00000280362.3:n.315-66T>A
ENST00000280362.7:c.315-66T>A	ENSP00000280362.3:n.315-66T>A
ENST00000524931.1:c.111-66T>A	ENSP00000434688.1:n.111-66T>A
ENST00000525803.1:c.*49-66T>A	ENSP00000431750.1:n.*49-66T>A
ENST00000527428.5:n.488+133T>A
ENST00000527635.1:n.356-66T>A
ENST00000528679.5:c.*124-66T>A	ENSP00000435895.1:n.*124-66T>A
ENST00000531175.1:n.398T>A
ENST00000531673.5:c.*123+133T>A	ENSP00000433469.1:n.*123+133T>A
NM_000317.2:c.315-66T>A	NP_000308.1:n.315-66T>A
XM_011542943.1:c.276-66T>A	XP_011541245.1:n.276-66T>A
NM_000317.3:c.315-66T>A MANE Select	NP_000308.1:n.315-66T>A