Canonical Allele Identifier: CA381169337
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64518916G>C (hg19) chr11:g.64751444G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751444G>C , CM000673.2:g.64751444G>C GRCh38
NC_000011.9:g.64518916G>C , CM000673.1:g.64518916G>C GRCh37
NC_000011.8:g.64275492G>C NCBI36
NG_013018.1:g.14272C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1850C>G MANE Select ENSP00000164139.3:p.Ala617Gly
ENST00000164139.3:c.1850C>G ENSP00000164139.3:p.Ala617Gly
ENST00000377432.7:c.1586C>G ENSP00000366650.3:p.Ala529Gly
ENST00000462303.1:n.174C>G
NM_001164716.1:c.1586C>G NP_001158188.1:p.Ala529Gly
NM_005609.2:c.1850C>G NP_005600.1:p.Ala617Gly
NM_005609.3:c.1850C>G NP_005600.1:p.Ala617Gly
NM_005609.4:c.1850C>G MANE Select NP_005600.1:p.Ala617Gly
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