Canonical Allele Identifier: CA2574864813
Gene: PYGM HGNC NCBI

Linked Data

gnomAD v4: 11-64751510-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751510C>T , CM000673.2:g.64751510C>T GRCh38
NC_000011.9:g.64518982C>T , CM000673.1:g.64518982C>T GRCh37
NC_000011.8:g.64275558C>T NCBI36
NG_013018.1:g.14206G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1828-44G>A MANE Select ENSP00000164139.3:n.1828-44G>A
ENST00000164139.3:c.1828-44G>A ENSP00000164139.3:n.1828-44G>A
ENST00000377432.7:c.1564-44G>A ENSP00000366650.3:n.1564-44G>A
ENST00000462303.1:n.152-44G>A
NM_001164716.1:c.1564-44G>A NP_001158188.1:n.1564-44G>A
NM_005609.2:c.1828-44G>A NP_005600.1:n.1828-44G>A
NM_005609.3:c.1828-44G>A NP_005600.1:n.1828-44G>A
NM_005609.4:c.1828-44G>A MANE Select NP_005600.1:n.1828-44G>A
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