Canonical Allele Identifier: CA2614196031
Gene: PYGM HGNC NCBI

Linked Data

gnomAD v4: 11-64752931-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64752931G>T , CM000673.2:g.64752931G>T GRCh38
NC_000011.9:g.64520403G>T , CM000673.1:g.64520403G>T GRCh37
NC_000011.8:g.64276979G>T NCBI36
NG_013018.1:g.12785C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1518+142C>A MANE Select ENSP00000164139.3:n.1518+142C>A
ENST00000164139.3:c.1518+142C>A ENSP00000164139.3:n.1518+142C>A
ENST00000377432.7:c.1254+142C>A ENSP00000366650.3:n.1254+142C>A
NM_001164716.1:c.1254+142C>A NP_001158188.1:n.1254+142C>A
NM_005609.2:c.1518+142C>A NP_005600.1:n.1518+142C>A
NM_005609.3:c.1518+142C>A NP_005600.1:n.1518+142C>A
NM_005609.4:c.1518+142C>A MANE Select NP_005600.1:n.1518+142C>A
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