Canonical Allele Identifier: CA381165566
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64514777T>C (hg19) chr11:g.64747305T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747305T>C , CM000673.2:g.64747305T>C GRCh38
NC_000011.9:g.64514777T>C , CM000673.1:g.64514777T>C GRCh37
NC_000011.8:g.64271353T>C NCBI36
NG_007574.1:g.3152A>G , LRG_100:g.3152A>G
NG_013018.1:g.18411A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.2231A>G MANE Select ENSP00000164139.3:p.Glu744Gly
ENST00000164139.3:c.2231A>G ENSP00000164139.3:p.Glu744Gly
ENST00000377432.7:c.1967A>G ENSP00000366650.3:p.Glu656Gly
ENST00000483742.1:n.1584A>G
NM_001164716.1:c.1967A>G NP_001158188.1:p.Glu656Gly
NM_005609.2:c.2231A>G NP_005600.1:p.Glu744Gly
NM_005609.3:c.2231A>G NP_005600.1:p.Glu744Gly
NM_005609.4:c.2231A>G MANE Select NP_005600.1:p.Glu744Gly
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