Canonical Allele Identifier: CA2792428400
Gene: PYGM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747456A>T , CM000673.2:g.64747456A>T GRCh38
NC_000011.9:g.64514928A>T , CM000673.1:g.64514928A>T GRCh37
NC_000011.8:g.64271504A>T NCBI36
NG_007574.1:g.3001T>A , LRG_100:g.3001T>A
NG_013018.1:g.18260T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2178-98T>A MANE Select ENSP00000164139.3:n.2178-98T>A
ENST00000164139.3:c.2178-98T>A ENSP00000164139.3:n.2178-98T>A
ENST00000377432.7:c.1914-98T>A ENSP00000366650.3:n.1914-98T>A
ENST00000483742.1:n.1433T>A
NM_001164716.1:c.1914-98T>A NP_001158188.1:n.1914-98T>A
NM_005609.2:c.2178-98T>A NP_005600.1:n.2178-98T>A
NM_005609.3:c.2178-98T>A NP_005600.1:n.2178-98T>A
NM_005609.4:c.2178-98T>A MANE Select NP_005600.1:n.2178-98T>A
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