Canonical Allele Identifier: CA381164625
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64514449A>C (hg19) chr11:g.64746977A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64746977A>C , CM000673.2:g.64746977A>C GRCh38
NC_000011.9:g.64514449A>C , CM000673.1:g.64514449A>C GRCh37
NC_000011.8:g.64271025A>C NCBI36
NG_007574.1:g.3480T>G , LRG_100:g.3480T>G
NG_013018.1:g.18739T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2323T>G MANE Select ENSP00000164139.3:p.Phe775Val
ENST00000164139.3:c.2323T>G ENSP00000164139.3:p.Phe775Val
ENST00000377432.7:c.2059T>G ENSP00000366650.3:p.Phe687Val
ENST00000483742.1:n.1676T>G
NM_001164716.1:c.2059T>G NP_001158188.1:p.Phe687Val
NM_005609.2:c.2323T>G NP_005600.1:p.Phe775Val
NM_005609.3:c.2323T>G NP_005600.1:p.Phe775Val
NM_005609.4:c.2323T>G MANE Select NP_005600.1:p.Phe775Val
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