Canonical Allele Identifier: CA2616001635

Gene: PTS

Linked Data

• gnomAD v4: 11-112233379-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233379A>T , CM000673.2:g.112233379A>T	GRCh38
NC_000011.9:g.112104102A>T , CM000673.1:g.112104102A>T	GRCh37
NC_000011.8:g.111609312A>T	NCBI36
NG_008743.1:g.12015A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.315-53A>T MANE Select	ENSP00000280362.3:n.315-53A>T
ENST00000280362.7:c.315-53A>T	ENSP00000280362.3:n.315-53A>T
ENST00000524931.1:c.111-53A>T	ENSP00000434688.1:n.111-53A>T
ENST00000525803.1:c.*49-53A>T	ENSP00000431750.1:n.*49-53A>T
ENST00000527428.5:n.488+146A>T
ENST00000527635.1:n.356-53A>T
ENST00000528679.5:c.*124-53A>T	ENSP00000435895.1:n.*124-53A>T
ENST00000531175.1:n.411A>T
ENST00000531673.5:c.*123+146A>T	ENSP00000433469.1:n.*123+146A>T
NM_000317.2:c.315-53A>T	NP_000308.1:n.315-53A>T
XM_011542943.1:c.276-53A>T	XP_011541245.1:n.276-53A>T
NM_000317.3:c.315-53A>T MANE Select	NP_000308.1:n.315-53A>T