Canonical Allele Identifier: CA2615999631

Gene: PTS

Linked Data

• gnomAD v4: 11-112228462-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112228462C>A , CM000673.2:g.112228462C>A	GRCh38
NC_000011.9:g.112099185C>A , CM000673.1:g.112099185C>A	GRCh37
NC_000011.8:g.111604395C>A	NCBI36
NG_008743.1:g.7098C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.84-132C>A MANE Select	ENSP00000280362.3:n.84-132C>A
ENST00000280362.7:c.84-132C>A	ENSP00000280362.3:n.84-132C>A
ENST00000524931.1:c.-122+104C>A	ENSP00000434688.1:n.-122+104C>A
ENST00000525645.1:n.159-132C>A
ENST00000525803.1:c.84-132C>A	ENSP00000431750.1:n.84-132C>A
ENST00000528679.5:c.84-132C>A	ENSP00000435895.1:n.84-132C>A
ENST00000531673.5:c.84-132C>A	ENSP00000433469.1:n.84-132C>A
NM_000317.2:c.84-132C>A	NP_000308.1:n.84-132C>A
NM_000317.3:c.84-132C>A MANE Select	NP_000308.1:n.84-132C>A