Canonical Allele Identifier: CA2000616475
Gene: PTS HGNC NCBI

Linked Data

dbSNP Id: rs1042384091
gnomAD v4: 11-112226401-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112226401C>G , CM000673.2:g.112226401C>G GRCh38
NC_000011.9:g.112097124C>G , CM000673.1:g.112097124C>G GRCh37
NC_000011.8:g.111602334C>G NCBI36
NG_008743.1:g.5037C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000280362.7:c.-43C>G ENSP00000280362.3:n.-43C>G
ENST00000525645.1:n.33C>G
ENST00000528679.5:c.-43C>G ENSP00000435895.1:n.-43C>G
ENST00000531673.5:c.-43C>G ENSP00000433469.1:n.-43C>G
NM_000317.2:c.-43C>G NP_000308.1:n.-43C>G
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