Canonical Allele Identifier: CA1978930203
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs2058424305
gnomAD v4: 11-64759996-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759996G>T , CM000673.2:g.64759996G>T GRCh38
NC_000011.9:g.64527468G>T , CM000673.1:g.64527468G>T GRCh37
NC_000011.8:g.64284044G>T NCBI36
NG_013018.1:g.5720C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.3:c.-98C>A ENSP00000164139.3:n.-98C>A
NM_001164716.1:c.-98C>A NP_001158188.1:n.-98C>A
NM_005609.2:c.-98C>A NP_005600.1:n.-98C>A
NM_005609.3:c.-98C>A NP_005600.1:n.-98C>A
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