Canonical Allele Identifier: CA381108755
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64525720G>T (hg19) chr11:g.64758248G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758248G>T , CM000673.2:g.64758248G>T GRCh38
NC_000011.9:g.64525720G>T , CM000673.1:g.64525720G>T GRCh37
NC_000011.8:g.64282296G>T NCBI36
NG_013018.1:g.7468C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.526C>A MANE Select ENSP00000164139.3:p.Gln176Lys
ENST00000164139.3:c.526C>A ENSP00000164139.3:p.Gln176Lys
ENST00000377432.7:c.262C>A ENSP00000366650.3:p.Gln88Lys
NM_001164716.1:c.262C>A NP_001158188.1:p.Gln88Lys
NM_005609.2:c.526C>A NP_005600.1:p.Gln176Lys
NM_005609.3:c.526C>A NP_005600.1:p.Gln176Lys
NM_005609.4:c.526C>A MANE Select NP_005600.1:p.Gln176Lys
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