Canonical Allele Identifier: CA1978929613
Gene: PYGM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759652G= , CM000673.2:g.64759652G= GRCh38
NC_000011.9:g.64527124G= , CM000673.1:g.64527124G= GRCh37
NC_000011.8:g.64283700G= NCBI36
NG_013018.1:g.6064C=

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.243+4C= MANE Select ENSP00000164139.3:n.243+4C=
ENST00000164139.3:c.243+4C= ENSP00000164139.3:n.243+4C=
ENST00000377432.7:c.243+4C= ENSP00000366650.3:n.243+4C=
NM_001164716.1:c.243+4C= NP_001158188.1:n.243+4C=
NM_005609.2:c.243+4C= NP_005600.1:n.243+4C=
NM_005609.3:c.243+4C= NP_005600.1:n.243+4C=
NM_005609.4:c.243+4C= MANE Select NP_005600.1:n.243+4C=
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