Canonical Allele Identifier: CA2574980375

Gene: PTS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233365A>C , CM000673.2:g.112233365A>C	GRCh38
NC_000011.9:g.112104088A>C , CM000673.1:g.112104088A>C	GRCh37
NC_000011.8:g.111609298A>C	NCBI36
NG_008743.1:g.12001A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000280362.8:c.315-67A>C MANE Select	ENSP00000280362.3:n.315-67A>C
ENST00000280362.7:c.315-67A>C	ENSP00000280362.3:n.315-67A>C
ENST00000524931.1:c.111-67A>C	ENSP00000434688.1:n.111-67A>C
ENST00000525803.1:c.*49-67A>C	ENSP00000431750.1:n.*49-67A>C
ENST00000527428.5:n.488+132A>C
ENST00000527635.1:n.356-67A>C
ENST00000528679.5:c.*124-67A>C	ENSP00000435895.1:n.*124-67A>C
ENST00000531175.1:n.397A>C
ENST00000531673.5:c.*123+132A>C	ENSP00000433469.1:n.*123+132A>C
NM_000317.2:c.315-67A>C	NP_000308.1:n.315-67A>C
XM_011542943.1:c.276-67A>C	XP_011541245.1:n.276-67A>C
NM_000317.3:c.315-67A>C MANE Select	NP_000308.1:n.315-67A>C