Canonical Allele Identifier: CA381111955
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 2435313
ClinVar RCV Id: RCV003135175
MyVariant Identifiers: chr11:g.64527149G>C (hg19) chr11:g.64759677G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759677G>C , CM000673.2:g.64759677G>C GRCh38
NC_000011.9:g.64527149G>C , CM000673.1:g.64527149G>C GRCh37
NC_000011.8:g.64283725G>C NCBI36
NG_013018.1:g.6039C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.222C>G MANE Select ENSP00000164139.3:p.His74Gln
ENST00000164139.3:c.222C>G ENSP00000164139.3:p.His74Gln
ENST00000377432.7:c.222C>G ENSP00000366650.3:p.His74Gln
NM_001164716.1:c.222C>G NP_001158188.1:p.His74Gln
NM_005609.2:c.222C>G NP_005600.1:p.His74Gln
NM_005609.3:c.222C>G NP_005600.1:p.His74Gln
NM_005609.4:c.222C>G MANE Select NP_005600.1:p.His74Gln
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