Canonical Allele Identifier: CA2616001647

Gene: PTS

Linked Data

• gnomAD v4: 11-112233392-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233392C>A , CM000673.2:g.112233392C>A	GRCh38
NC_000011.9:g.112104115C>A , CM000673.1:g.112104115C>A	GRCh37
NC_000011.8:g.111609325C>A	NCBI36
NG_008743.1:g.12028C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000280362.8:c.315-40C>A MANE Select	ENSP00000280362.3:n.315-40C>A
ENST00000280362.7:c.315-40C>A	ENSP00000280362.3:n.315-40C>A
ENST00000524931.1:c.111-40C>A	ENSP00000434688.1:n.111-40C>A
ENST00000525803.1:c.*49-40C>A	ENSP00000431750.1:n.*49-40C>A
ENST00000527428.5:n.488+159C>A
ENST00000527635.1:n.356-40C>A
ENST00000528679.5:c.*124-40C>A	ENSP00000435895.1:n.*124-40C>A
ENST00000531175.1:n.424C>A
ENST00000531673.5:c.*123+159C>A	ENSP00000433469.1:n.*123+159C>A
NM_000317.2:c.315-40C>A	NP_000308.1:n.315-40C>A
XM_011542943.1:c.276-40C>A	XP_011541245.1:n.276-40C>A
NM_000317.3:c.315-40C>A MANE Select	NP_000308.1:n.315-40C>A