Canonical Allele Identifier: CA2614192179
Gene: PYGM HGNC NCBI

Linked Data

gnomAD v4: 11-64760015-G-T
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Genomic Alleles

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

Transcript Alleles

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