Canonical Allele Identifier: CA2574980380

Gene: PTS

Linked Data

• gnomAD v4: 11-112233393-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233393A>G , CM000673.2:g.112233393A>G	GRCh38
NC_000011.9:g.112104116A>G , CM000673.1:g.112104116A>G	GRCh37
NC_000011.8:g.111609326A>G	NCBI36
NG_008743.1:g.12029A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000280362.8:c.315-39A>G MANE Select	ENSP00000280362.3:n.315-39A>G
ENST00000280362.7:c.315-39A>G	ENSP00000280362.3:n.315-39A>G
ENST00000524931.1:c.111-39A>G	ENSP00000434688.1:n.111-39A>G
ENST00000525803.1:c.*49-39A>G	ENSP00000431750.1:n.*49-39A>G
ENST00000527428.5:n.488+160A>G
ENST00000527635.1:n.356-39A>G
ENST00000528679.5:c.*124-39A>G	ENSP00000435895.1:n.*124-39A>G
ENST00000531175.1:n.425A>G
ENST00000531673.5:c.*123+160A>G	ENSP00000433469.1:n.*123+160A>G
NM_000317.2:c.315-39A>G	NP_000308.1:n.315-39A>G
XM_011542943.1:c.276-39A>G	XP_011541245.1:n.276-39A>G
NM_000317.3:c.315-39A>G MANE Select	NP_000308.1:n.315-39A>G