Canonical Allele Identifier: CA1978919426
Gene: PYGM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64752711A= , CM000673.2:g.64752711A= GRCh38
NC_000011.9:g.64520183A= , CM000673.1:g.64520183A= GRCh37
NC_000011.8:g.64276759A= NCBI36
NG_013018.1:g.13005T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1519-207T= MANE Select ENSP00000164139.3:n.1519-207T=
ENST00000164139.3:c.1519-207T= ENSP00000164139.3:n.1519-207T=
ENST00000377432.7:c.1255-207T= ENSP00000366650.3:n.1255-207T=
NM_001164716.1:c.1255-207T= NP_001158188.1:n.1255-207T=
NM_005609.2:c.1519-207T= NP_005600.1:n.1519-207T=
NM_005609.3:c.1519-207T= NP_005600.1:n.1519-207T=
NM_005609.4:c.1519-207T= MANE Select NP_005600.1:n.1519-207T=
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