Canonical Allele Identifier: CA418206012
Gene: PGM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.64089341C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63623670C>A , CM000663.2:g.63623670C>A GRCh38
NC_000001.10:g.64089341C>A , CM000663.1:g.64089341C>A GRCh37
NC_000001.9:g.63861929C>A NCBI36
NG_016966.1:g.35395C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.247-5755C>A MANE Select ENSP00000360125.3:n.247-5755C>A
ENST00000650546.1:c.247-5755C>A ENSP00000497812.1:n.247-5755C>A
ENST00000371083.4:c.210C>A ENSP00000360124.4:p.Arg70=
ENST00000371084.7:c.247-5755C>A ENSP00000360125.3:n.247-5755C>A
ENST00000540265.5:c.-345-5755C>A ENSP00000443449.1:n.-345-5755C>A
NM_001172818.1:c.210C>A NP_001166289.1:p.Arg70=
NM_001172819.1:c.-345-5755C>A NP_001166290.1:n.-345-5755C>A
NM_002633.2:c.247-5755C>A NP_002624.2:n.247-5755C>A
NM_002633.3:c.247-5755C>A MANE Select NP_002624.2:n.247-5755C>A
NM_001172819.2:c.-345-5755C>A NP_001166290.1:n.-345-5755C>A
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