Canonical Allele Identifier: CA223899635
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs750075395
gnomAD v2: 11-64520209-C-T
gnomAD v3: 11-64752737-C-T
gnomAD v4: 11-64752737-C-T
MyVariant Identifiers: chr11:g.64520209C>T (hg19) chr11:g.64752737C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64752737C>T , CM000673.2:g.64752737C>T GRCh38
NC_000011.9:g.64520209C>T , CM000673.1:g.64520209C>T GRCh37
NC_000011.8:g.64276785C>T NCBI36
NG_013018.1:g.12979G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1519-233G>A MANE Select ENSP00000164139.3:n.1519-233G>A
ENST00000164139.3:c.1519-233G>A ENSP00000164139.3:n.1519-233G>A
ENST00000377432.7:c.1255-233G>A ENSP00000366650.3:n.1255-233G>A
NM_001164716.1:c.1255-233G>A NP_001158188.1:n.1255-233G>A
NM_005609.2:c.1519-233G>A NP_005600.1:n.1519-233G>A
NM_005609.3:c.1519-233G>A NP_005600.1:n.1519-233G>A
NM_005609.4:c.1519-233G>A MANE Select NP_005600.1:n.1519-233G>A
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