Canonical Allele Identifier: CA2614199578
Gene: PYGM HGNC NCBI

Linked Data

gnomAD v4: 11-64747470-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747470G>T , CM000673.2:g.64747470G>T GRCh38
NC_000011.9:g.64514942G>T , CM000673.1:g.64514942G>T GRCh37
NC_000011.8:g.64271518G>T NCBI36
NG_007574.1:g.2987C>A , LRG_100:g.2987C>A
NG_013018.1:g.18246C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2178-112C>A MANE Select ENSP00000164139.3:n.2178-112C>A
ENST00000164139.3:c.2178-112C>A ENSP00000164139.3:n.2178-112C>A
ENST00000377432.7:c.1914-112C>A ENSP00000366650.3:n.1914-112C>A
ENST00000483742.1:n.1419C>A
NM_001164716.1:c.1914-112C>A NP_001158188.1:n.1914-112C>A
NM_005609.2:c.2178-112C>A NP_005600.1:n.2178-112C>A
NM_005609.3:c.2178-112C>A NP_005600.1:n.2178-112C>A
NM_005609.4:c.2178-112C>A MANE Select NP_005600.1:n.2178-112C>A
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