Canonical Allele Identifier: CA1143685141
Gene: PGM1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63623661A= , CM000663.2:g.63623661A= GRCh38
NC_000001.10:g.64089332A= , CM000663.1:g.64089332A= GRCh37
NC_000001.9:g.63861920A= NCBI36
NG_016966.1:g.35386A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.247-5764A= MANE Select ENSP00000360125.3:n.247-5764A=
ENST00000650546.1:c.247-5764A= ENSP00000497812.1:n.247-5764A=
ENST00000371083.4:c.201A= ENSP00000360124.4:p.Leu67=
ENST00000371084.7:c.247-5764A= ENSP00000360125.3:n.247-5764A=
ENST00000540265.5:c.-345-5764A= ENSP00000443449.1:n.-345-5764A=
NM_001172818.1:c.201A= NP_001166289.1:p.Leu67=
NM_001172819.1:c.-345-5764A= NP_001166290.1:n.-345-5764A=
NM_002633.2:c.247-5764A= NP_002624.2:n.247-5764A=
NM_002633.3:c.247-5764A= MANE Select NP_002624.2:n.247-5764A=
NM_001172819.2:c.-345-5764A= NP_001166290.1:n.-345-5764A=
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