Canonical Allele Identifier: CA381164680
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64514455T>C (hg19) chr11:g.64746983T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64746983T>C , CM000673.2:g.64746983T>C GRCh38
NC_000011.9:g.64514455T>C , CM000673.1:g.64514455T>C GRCh37
NC_000011.8:g.64271031T>C NCBI36
NG_007574.1:g.3474A>G , LRG_100:g.3474A>G
NG_013018.1:g.18733A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2317A>G MANE Select ENSP00000164139.3:p.Lys773Glu
ENST00000164139.3:c.2317A>G ENSP00000164139.3:p.Lys773Glu
ENST00000377432.7:c.2053A>G ENSP00000366650.3:p.Lys685Glu
ENST00000483742.1:n.1670A>G
NM_001164716.1:c.2053A>G NP_001158188.1:p.Lys685Glu
NM_005609.2:c.2317A>G NP_005600.1:p.Lys773Glu
NM_005609.3:c.2317A>G NP_005600.1:p.Lys773Glu
NM_005609.4:c.2317A>G MANE Select NP_005600.1:p.Lys773Glu
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