Canonical Allele Identifier: CA2574865003
Gene: PYGM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758720G>C , CM000673.2:g.64758720G>C GRCh38
NC_000011.9:g.64526192G>C , CM000673.1:g.64526192G>C GRCh37
NC_000011.8:g.64282768G>C NCBI36
NG_013018.1:g.6996C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.244-16C>G MANE Select ENSP00000164139.3:n.244-16C>G
ENST00000164139.3:c.244-16C>G ENSP00000164139.3:n.244-16C>G
ENST00000377432.7:c.244-454C>G ENSP00000366650.3:n.244-454C>G
NM_001164716.1:c.244-454C>G NP_001158188.1:n.244-454C>G
NM_005609.2:c.244-16C>G NP_005600.1:n.244-16C>G
NM_005609.3:c.244-16C>G NP_005600.1:n.244-16C>G
NM_005609.4:c.244-16C>G MANE Select NP_005600.1:n.244-16C>G
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