Canonical Allele Identifier: CA6278440
Gene: PTS HGNC NCBI

Linked Data

dbSNP Id: rs767215079
ExAC: 11:112099275 G / C
gnomAD v2: 11-112099275-G-C
gnomAD v3: 11-112228552-G-C
gnomAD v4: 11-112228552-G-C
MyVariant Identifiers: chr11:g.112099275G>C (hg19) chr11:g.112228552G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112228552G>C , CM000673.2:g.112228552G>C GRCh38
NC_000011.9:g.112099275G>C , CM000673.1:g.112099275G>C GRCh37
NC_000011.8:g.111604485G>C NCBI36
NG_008743.1:g.7188G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000280362.8:c.84-42G>C MANE Select ENSP00000280362.3:n.84-42G>C
ENST00000280362.7:c.84-42G>C ENSP00000280362.3:n.84-42G>C
ENST00000524931.1:c.-121-42G>C ENSP00000434688.1:n.-121-42G>C
ENST00000525645.1:n.159-42G>C
ENST00000525803.1:c.84-42G>C ENSP00000431750.1:n.84-42G>C
ENST00000528679.5:c.84-42G>C ENSP00000435895.1:n.84-42G>C
ENST00000531673.5:c.84-42G>C ENSP00000433469.1:n.84-42G>C
NM_000317.2:c.84-42G>C NP_000308.1:n.84-42G>C
NM_000317.3:c.84-42G>C MANE Select NP_000308.1:n.84-42G>C
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