Canonical Allele Identifier: CA381175609
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64520992T>A (hg19) chr11:g.64753520T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64753520T>A , CM000673.2:g.64753520T>A GRCh38
NC_000011.9:g.64520992T>A , CM000673.1:g.64520992T>A GRCh37
NC_000011.8:g.64277568T>A NCBI36
NG_013018.1:g.12196A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1402A>T MANE Select ENSP00000164139.3:p.Ile468Phe
ENST00000164139.3:c.1402A>T ENSP00000164139.3:p.Ile468Phe
ENST00000377432.7:c.1138A>T ENSP00000366650.3:p.Ile380Phe
NM_001164716.1:c.1138A>T NP_001158188.1:p.Ile380Phe
NM_005609.2:c.1402A>T NP_005600.1:p.Ile468Phe
NM_005609.3:c.1402A>T NP_005600.1:p.Ile468Phe
NM_005609.4:c.1402A>T MANE Select NP_005600.1:p.Ile468Phe
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