Canonical Allele Identifier: CA16042813
Gene: PTS HGNC NCBI

Linked Data

ClinVar Variation Id: 372484
ClinVar RCV Id: RCV000413378 RCV001261646
dbSNP Id: rs1057517810
MyVariant Identifiers: chr11:g.112101400A>G (hg19) chr11:g.112230677A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112230677A>G , CM000673.2:g.112230677A>G GRCh38
NC_000011.9:g.112101400A>G , CM000673.1:g.112101400A>G GRCh37
NC_000011.8:g.111606610A>G NCBI36
NG_008743.1:g.9313A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000280362.8:c.238A>G MANE Select ENSP00000280362.3:p.Met80Val
ENST00000280362.7:c.238A>G ENSP00000280362.3:p.Met80Val
ENST00000524931.1:c.34A>G ENSP00000434688.1:p.Met12Val
ENST00000525803.1:c.163+2004A>G ENSP00000431750.1:n.163+2004A>G
ENST00000527428.5:n.412A>G
ENST00000527635.1:n.279A>G
ENST00000528679.5:c.*47A>G ENSP00000435895.1:n.*47A>G
ENST00000531175.1:n.189A>G
ENST00000531673.5:c.*47A>G ENSP00000433469.1:n.*47A>G
NM_000317.2:c.238A>G NP_000308.1:p.Met80Val
XM_011542943.1:c.199A>G XP_011541245.1:p.Met67Val
NM_000317.3:c.238A>G MANE Select NP_000308.1:p.Met80Val
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