Canonical Allele Identifier: CA942300923

Gene: PTS

Linked Data

• dbSNP Id: rs1859968636
• gnomAD v3: 11-112233392-C-T
• gnomAD v4: 11-112233392-C-T

Genomic Alleles

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

Transcript Alleles

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