Canonical Allele Identifier: CA2614191488
Gene: PYGM HGNC NCBI

Linked Data

gnomAD v4: 11-64759517-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759517G>C , CM000673.2:g.64759517G>C GRCh38
NC_000011.9:g.64526989G>C , CM000673.1:g.64526989G>C GRCh37
NC_000011.8:g.64283565G>C NCBI36
NG_013018.1:g.6199C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.243+139C>G MANE Select ENSP00000164139.3:n.243+139C>G
ENST00000164139.3:c.243+139C>G ENSP00000164139.3:n.243+139C>G
ENST00000377432.7:c.243+139C>G ENSP00000366650.3:n.243+139C>G
NM_001164716.1:c.243+139C>G NP_001158188.1:n.243+139C>G
NM_005609.2:c.243+139C>G NP_005600.1:n.243+139C>G
NM_005609.3:c.243+139C>G NP_005600.1:n.243+139C>G
NM_005609.4:c.243+139C>G MANE Select NP_005600.1:n.243+139C>G
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