Canonical Allele Identifier: CA418206660
Gene: PGM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.64089410G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63623739G>A , CM000663.2:g.63623739G>A GRCh38
NC_000001.10:g.64089410G>A , CM000663.1:g.64089410G>A GRCh37
NC_000001.9:g.63861998G>A NCBI36
NG_016966.1:g.35464G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.247-5686G>A MANE Select ENSP00000360125.3:n.247-5686G>A
ENST00000650546.1:c.247-5686G>A ENSP00000497812.1:n.247-5686G>A
ENST00000371083.4:c.279G>A ENSP00000360124.4:p.Val93=
ENST00000371084.7:c.247-5686G>A ENSP00000360125.3:n.247-5686G>A
ENST00000540265.5:c.-345-5686G>A ENSP00000443449.1:n.-345-5686G>A
NM_001172818.1:c.279G>A NP_001166289.1:p.Val93=
NM_001172819.1:c.-345-5686G>A NP_001166290.1:n.-345-5686G>A
NM_002633.2:c.247-5686G>A NP_002624.2:n.247-5686G>A
NM_002633.3:c.247-5686G>A MANE Select NP_002624.2:n.247-5686G>A
NM_001172819.2:c.-345-5686G>A NP_001166290.1:n.-345-5686G>A
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