Canonical Allele Identifier: CA1978917029
Gene: PYGM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751658G= , CM000673.2:g.64751658G= GRCh38
NC_000011.9:g.64519130G= , CM000673.1:g.64519130G= GRCh37
NC_000011.8:g.64275706G= NCBI36
NG_013018.1:g.14058C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1769-3C= MANE Select ENSP00000164139.3:n.1769-3C=
ENST00000164139.3:c.1769-3C= ENSP00000164139.3:n.1769-3C=
ENST00000377432.7:c.1505-3C= ENSP00000366650.3:n.1505-3C=
ENST00000462303.1:n.93-3C=
NM_001164716.1:c.1505-3C= NP_001158188.1:n.1505-3C=
NM_005609.2:c.1769-3C= NP_005600.1:n.1769-3C=
NM_005609.3:c.1769-3C= NP_005600.1:n.1769-3C=
NM_005609.4:c.1769-3C= MANE Select NP_005600.1:n.1769-3C=
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