Canonical Allele Identifier: CA1171568760
Gene: PGM1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63623656G= , CM000663.2:g.63623656G= GRCh38
NC_000001.10:g.64089327G= , CM000663.1:g.64089327G= GRCh37
NC_000001.9:g.63861915G= NCBI36
NG_016966.1:g.35381G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.247-5769G= MANE Select ENSP00000360125.3:n.247-5769G=
ENST00000650546.1:c.247-5769G= ENSP00000497812.1:n.247-5769G=
ENST00000371083.4:c.196G= ENSP00000360124.4:p.Asp66=
ENST00000371084.7:c.247-5769G= ENSP00000360125.3:n.247-5769G=
ENST00000540265.5:c.-345-5769G= ENSP00000443449.1:n.-345-5769G=
NM_001172818.1:c.196G= NP_001166289.1:p.Asp66=
NM_001172819.1:c.-345-5769G= NP_001166290.1:n.-345-5769G=
NM_002633.2:c.247-5769G= NP_002624.2:n.247-5769G=
NM_002633.3:c.247-5769G= MANE Select NP_002624.2:n.247-5769G=
NM_001172819.2:c.-345-5769G= NP_001166290.1:n.-345-5769G=
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