Canonical Allele Identifier: CA601758253

Gene: PTS

Linked Data

• ClinVar Variation Id: 3022379
• ClinVar RCV Id: RCV003881458
• dbSNP Id: rs1157866178
• gnomAD v2: 11-112103877-T-C
• gnomAD v3: 11-112233154-T-C
• gnomAD v4: 11-112233154-T-C
• MyVariant Identifiers: chr11:g.112103877T>C (hg19) ; chr11:g.112233154T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233154T>C , CM000673.2:g.112233154T>C	GRCh38
NC_000011.9:g.112103877T>C , CM000673.1:g.112103877T>C	GRCh37
NC_000011.8:g.111609087T>C	NCBI36
NG_008743.1:g.11790T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.244-9T>C MANE Select	ENSP00000280362.3:n.244-9T>C
ENST00000280362.7:c.244-9T>C	ENSP00000280362.3:n.244-9T>C
ENST00000524931.1:c.40-9T>C	ENSP00000434688.1:n.40-9T>C
ENST00000525803.1:c.164-9T>C	ENSP00000431750.1:n.164-9T>C
ENST00000527428.5:n.418-9T>C
ENST00000527635.1:n.285-9T>C
ENST00000528679.5:c.*53-9T>C	ENSP00000435895.1:n.*53-9T>C
ENST00000531175.1:n.195-9T>C
ENST00000531673.5:c.*53-9T>C	ENSP00000433469.1:n.*53-9T>C
NM_000317.2:c.244-9T>C	NP_000308.1:n.244-9T>C
XM_011542943.1:c.205-9T>C	XP_011541245.1:n.205-9T>C
NM_000317.3:c.244-9T>C MANE Select	NP_000308.1:n.244-9T>C