Canonical Allele Identifier: CA474959163
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 2843426
ClinVar RCV Id: RCV003604755
MyVariant Identifiers: chr11:g.64520602G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64753130G>T , CM000673.2:g.64753130G>T GRCh38
NC_000011.9:g.64520602G>T , CM000673.1:g.64520602G>T GRCh37
NC_000011.8:g.64277178G>T NCBI36
NG_013018.1:g.12586C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.1461C>A MANE Select ENSP00000164139.3:p.Ile487=
ENST00000164139.3:c.1461C>A ENSP00000164139.3:p.Ile487=
ENST00000377432.7:c.1197C>A ENSP00000366650.3:p.Ile399=
NM_001164716.1:c.1197C>A NP_001158188.1:p.Ile399=
NM_005609.2:c.1461C>A NP_005600.1:p.Ile487=
NM_005609.3:c.1461C>A NP_005600.1:p.Ile487=
NM_005609.4:c.1461C>A MANE Select NP_005600.1:p.Ile487=
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