Canonical Allele Identifier: CA2523408909
Gene: PYGM HGNC NCBI

Linked Data

gnomAD v4: 11-64760027-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64760027C>A , CM000673.2:g.64760027C>A GRCh38
NC_000011.9:g.64527499C>A , CM000673.1:g.64527499C>A GRCh37
NC_000011.8:g.64284075C>A NCBI36
NG_013018.1:g.5689G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.3:c.-129G>T ENSP00000164139.3:n.-129G>T
NM_001164716.1:c.-129G>T NP_001158188.1:n.-129G>T
NM_005609.2:c.-129G>T NP_005600.1:n.-129G>T
NM_005609.3:c.-129G>T NP_005600.1:n.-129G>T
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