Canonical Allele Identifier: CA382627822

Gene: PTS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233190A>G , CM000673.2:g.112233190A>G	GRCh38
NC_000011.9:g.112103913A>G , CM000673.1:g.112103913A>G	GRCh37
NC_000011.8:g.111609123A>G	NCBI36
NG_008743.1:g.11826A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000317.3:c.271A>G MANE Select	NP_000308.1:p.Lys91Glu
ENST00000280362.8:c.271A>G MANE Select	ENSP00000280362.3:p.Lys91Glu
NM_000317.2:c.271A>G	NP_000308.1:p.Lys91Glu
ENST00000280362.7:c.271A>G	ENSP00000280362.3:p.Lys91Glu
ENST00000524931.1:c.67A>G	ENSP00000434688.1:p.Lys23Glu
ENST00000525803.1:c.*5A>G	ENSP00000431750.1:n.*5A>G
ENST00000527428.5:n.445A>G
ENST00000527635.1:n.312A>G
ENST00000528679.5:c.*80A>G	ENSP00000435895.1:n.*80A>G
ENST00000531175.1:n.222A>G
ENST00000531673.5:c.*80A>G	ENSP00000433469.1:n.*80A>G
XM_011542943.1:c.232A>G	XP_011541245.1:p.Lys78Glu