Canonical Allele Identifier: CA602134618

Gene: PTS

Linked Data

• dbSNP Id: rs778547514
• gnomAD v2: 11-112104127-T-G
• gnomAD v4: 11-112233404-T-G
• MyVariant Identifiers: chr11:g.112104127T>G (hg19) ; chr11:g.112233404T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233404T>G , CM000673.2:g.112233404T>G	GRCh38
NC_000011.9:g.112104127T>G , CM000673.1:g.112104127T>G	GRCh37
NC_000011.8:g.111609337T>G	NCBI36
NG_008743.1:g.12040T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.315-28T>G MANE Select	ENSP00000280362.3:n.315-28T>G
ENST00000280362.7:c.315-28T>G	ENSP00000280362.3:n.315-28T>G
ENST00000524931.1:c.111-28T>G	ENSP00000434688.1:n.111-28T>G
ENST00000525803.1:c.*49-28T>G	ENSP00000431750.1:n.*49-28T>G
ENST00000527428.5:n.488+171T>G
ENST00000527635.1:n.356-28T>G
ENST00000528679.5:c.*124-28T>G	ENSP00000435895.1:n.*124-28T>G
ENST00000531673.5:c.*123+171T>G	ENSP00000433469.1:n.*123+171T>G
NM_000317.2:c.315-28T>G	NP_000308.1:n.315-28T>G
XM_011542943.1:c.276-28T>G	XP_011541245.1:n.276-28T>G
NM_000317.3:c.315-28T>G MANE Select	NP_000308.1:n.315-28T>G