Canonical Allele Identifier: CA2517066109
Gene: PYGM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759920A>G , CM000673.2:g.64759920A>G GRCh38
NC_000011.9:g.64527392A>G , CM000673.1:g.64527392A>G GRCh37
NC_000011.8:g.64283968A>G NCBI36
NG_013018.1:g.5796T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.-22T>C MANE Select ENSP00000164139.3:n.-22T>C
ENST00000164139.3:c.-22T>C ENSP00000164139.3:n.-22T>C
ENST00000377432.7:c.-22T>C ENSP00000366650.3:n.-22T>C
NM_001164716.1:c.-22T>C NP_001158188.1:n.-22T>C
NM_005609.2:c.-22T>C NP_005600.1:n.-22T>C
NM_005609.3:c.-22T>C NP_005600.1:n.-22T>C
NM_005609.4:c.-22T>C MANE Select NP_005600.1:n.-22T>C
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