Canonical Allele Identifier: CA942300919

Gene: PTS

Linked Data

• dbSNP Id: rs1859968596
• gnomAD v3: 11-112233384-A-G
• gnomAD v4: 11-112233384-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233384A>G , CM000673.2:g.112233384A>G	GRCh38
NC_000011.9:g.112104107A>G , CM000673.1:g.112104107A>G	GRCh37
NC_000011.8:g.111609317A>G	NCBI36
NG_008743.1:g.12020A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.315-48A>G MANE Select	ENSP00000280362.3:n.315-48A>G
ENST00000280362.7:c.315-48A>G	ENSP00000280362.3:n.315-48A>G
ENST00000524931.1:c.111-48A>G	ENSP00000434688.1:n.111-48A>G
ENST00000525803.1:c.*49-48A>G	ENSP00000431750.1:n.*49-48A>G
ENST00000527428.5:n.488+151A>G
ENST00000527635.1:n.356-48A>G
ENST00000528679.5:c.*124-48A>G	ENSP00000435895.1:n.*124-48A>G
ENST00000531175.1:n.416A>G
ENST00000531673.5:c.*123+151A>G	ENSP00000433469.1:n.*123+151A>G
NM_000317.2:c.315-48A>G	NP_000308.1:n.315-48A>G
XM_011542943.1:c.276-48A>G	XP_011541245.1:n.276-48A>G
NM_000317.3:c.315-48A>G MANE Select	NP_000308.1:n.315-48A>G