Canonical Allele Identifier: CA223888606
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 2893487
ClinVar RCV Id: RCV003603020
dbSNP Id: rs1038090665
gnomAD v2: 11-64526190-C-T
gnomAD v3: 11-64758718-C-T
gnomAD v4: 11-64758718-C-T
MyVariant Identifiers: chr11:g.64526190C>T (hg19) chr11:g.64758718C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758718C>T , CM000673.2:g.64758718C>T GRCh38
NC_000011.9:g.64526190C>T , CM000673.1:g.64526190C>T GRCh37
NC_000011.8:g.64282766C>T NCBI36
NG_013018.1:g.6998G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.244-14G>A MANE Select ENSP00000164139.3:n.244-14G>A
ENST00000164139.3:c.244-14G>A ENSP00000164139.3:n.244-14G>A
ENST00000377432.7:c.244-452G>A ENSP00000366650.3:n.244-452G>A
NM_001164716.1:c.244-452G>A NP_001158188.1:n.244-452G>A
NM_005609.2:c.244-14G>A NP_005600.1:n.244-14G>A
NM_005609.3:c.244-14G>A NP_005600.1:n.244-14G>A
NM_005609.4:c.244-14G>A MANE Select NP_005600.1:n.244-14G>A
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