Canonical Allele Identifier: CA2000619817

Gene: PTS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233198G= , CM000673.2:g.112233198G=	GRCh38
NC_000011.9:g.112103921G= , CM000673.1:g.112103921G=	GRCh37
NC_000011.8:g.111609131G=	NCBI36
NG_008743.1:g.11834G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.279G= MANE Select	ENSP00000280362.3:p.Leu93=
ENST00000280362.7:c.279G=	ENSP00000280362.3:p.Leu93=
ENST00000524931.1:c.75G=	ENSP00000434688.1:p.Leu25=
ENST00000525803.1:c.*13G=	ENSP00000431750.1:n.*13G=
ENST00000527428.5:n.453G=
ENST00000527635.1:n.320G=
ENST00000528679.5:c.*88G=	ENSP00000435895.1:n.*88G=
ENST00000531175.1:n.230G=
ENST00000531673.5:c.*88G=	ENSP00000433469.1:n.*88G=
NM_000317.2:c.279G=	NP_000308.1:p.Leu93=
XM_011542943.1:c.240G=	XP_011541245.1:p.Leu80=
NM_000317.3:c.279G= MANE Select	NP_000308.1:p.Leu93=