Canonical Allele Identifier: CA1978930211
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs2058424389
gnomAD v4: 11-64760015-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64760015G>C , CM000673.2:g.64760015G>C GRCh38
NC_000011.9:g.64527487G>C , CM000673.1:g.64527487G>C GRCh37
NC_000011.8:g.64284063G>C NCBI36
NG_013018.1:g.5701C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.3:c.-117C>G ENSP00000164139.3:n.-117C>G
NM_001164716.1:c.-117C>G NP_001158188.1:n.-117C>G
NM_005609.2:c.-117C>G NP_005600.1:n.-117C>G
NM_005609.3:c.-117C>G NP_005600.1:n.-117C>G
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