Canonical Allele Identifier: CA602134617

Gene: PTS

Linked Data

• dbSNP Id: rs1447483420
• gnomAD v2: 11-112104104-T-C
• MyVariant Identifiers: chr11:g.112104104T>C (hg19) ; chr11:g.112233381T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233381T>C , CM000673.2:g.112233381T>C	GRCh38
NC_000011.9:g.112104104T>C , CM000673.1:g.112104104T>C	GRCh37
NC_000011.8:g.111609314T>C	NCBI36
NG_008743.1:g.12017T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.315-51T>C MANE Select	ENSP00000280362.3:n.315-51T>C
ENST00000280362.7:c.315-51T>C	ENSP00000280362.3:n.315-51T>C
ENST00000524931.1:c.111-51T>C	ENSP00000434688.1:n.111-51T>C
ENST00000525803.1:c.*49-51T>C	ENSP00000431750.1:n.*49-51T>C
ENST00000527428.5:n.488+148T>C
ENST00000527635.1:n.356-51T>C
ENST00000528679.5:c.*124-51T>C	ENSP00000435895.1:n.*124-51T>C
ENST00000531175.1:n.413T>C
ENST00000531673.5:c.*123+148T>C	ENSP00000433469.1:n.*123+148T>C
NM_000317.2:c.315-51T>C	NP_000308.1:n.315-51T>C
XM_011542943.1:c.276-51T>C	XP_011541245.1:n.276-51T>C
NM_000317.3:c.315-51T>C MANE Select	NP_000308.1:n.315-51T>C