Canonical Allele Identifier: CA6278561
Gene: PTS HGNC NCBI

Linked Data

ClinVar Variation Id: 555095
ClinVar RCV Id: RCV000670843
dbSNP Id: rs750455879
ExAC: 11:112103931 G / A
gnomAD v2: 11-112103931-G-A
gnomAD v3: 11-112233208-G-A
gnomAD v4: 11-112233208-G-A
MyVariant Identifiers: chr11:g.112103931G>A (hg19) chr11:g.112233208G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112233208G>A , CM000673.2:g.112233208G>A GRCh38
NC_000011.9:g.112103931G>A , CM000673.1:g.112103931G>A GRCh37
NC_000011.8:g.111609141G>A NCBI36
NG_008743.1:g.11844G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000280362.8:c.289G>A MANE Select ENSP00000280362.3:p.Val97Met
ENST00000280362.7:c.289G>A ENSP00000280362.3:p.Val97Met
ENST00000524931.1:c.85G>A ENSP00000434688.1:p.Val29Met
ENST00000525803.1:c.*23G>A ENSP00000431750.1:n.*23G>A
ENST00000527428.5:n.463G>A
ENST00000527635.1:n.330G>A
ENST00000528679.5:c.*98G>A ENSP00000435895.1:n.*98G>A
ENST00000531175.1:n.240G>A
ENST00000531673.5:c.*98G>A ENSP00000433469.1:n.*98G>A
NM_000317.2:c.289G>A NP_000308.1:p.Val97Met
XM_011542943.1:c.250G>A XP_011541245.1:p.Val84Met
NM_000317.3:c.289G>A MANE Select NP_000308.1:p.Val97Met
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