Canonical Allele Identifier: CA6278439
Gene: PTS HGNC NCBI

Linked Data

dbSNP Id: rs754745541
ExAC: 11:112099272 T / A
gnomAD v2: 11-112099272-T-A
gnomAD v4: 11-112228549-T-A
MyVariant Identifiers: chr11:g.112099272T>A (hg19) chr11:g.112228549T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112228549T>A , CM000673.2:g.112228549T>A GRCh38
NC_000011.9:g.112099272T>A , CM000673.1:g.112099272T>A GRCh37
NC_000011.8:g.111604482T>A NCBI36
NG_008743.1:g.7185T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000280362.8:c.84-45T>A MANE Select ENSP00000280362.3:n.84-45T>A
ENST00000280362.7:c.84-45T>A ENSP00000280362.3:n.84-45T>A
ENST00000524931.1:c.-121-45T>A ENSP00000434688.1:n.-121-45T>A
ENST00000525645.1:n.159-45T>A
ENST00000525803.1:c.84-45T>A ENSP00000431750.1:n.84-45T>A
ENST00000528679.5:c.84-45T>A ENSP00000435895.1:n.84-45T>A
ENST00000531673.5:c.84-45T>A ENSP00000433469.1:n.84-45T>A
NM_000317.2:c.84-45T>A NP_000308.1:n.84-45T>A
NM_000317.3:c.84-45T>A MANE Select NP_000308.1:n.84-45T>A
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