Canonical Allele Identifier: CA2792428722
Gene: PYGM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64753333A>T , CM000673.2:g.64753333A>T GRCh38
NC_000011.9:g.64520805A>T , CM000673.1:g.64520805A>T GRCh37
NC_000011.8:g.64277381A>T NCBI36
NG_013018.1:g.12383T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1404-146T>A MANE Select ENSP00000164139.3:n.1404-146T>A
ENST00000164139.3:c.1404-146T>A ENSP00000164139.3:n.1404-146T>A
ENST00000377432.7:c.1140-146T>A ENSP00000366650.3:n.1140-146T>A
NM_001164716.1:c.1140-146T>A NP_001158188.1:n.1140-146T>A
NM_005609.2:c.1404-146T>A NP_005600.1:n.1404-146T>A
NM_005609.3:c.1404-146T>A NP_005600.1:n.1404-146T>A
NM_005609.4:c.1404-146T>A MANE Select NP_005600.1:n.1404-146T>A
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