Canonical Allele Identifier: CA223898681
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 1605703
ClinVar RCV Id: RCV002149851
dbSNP Id: rs1022322449
gnomAD v4: 11-64751664-A-T
MyVariant Identifiers: chr11:g.64519136A>T (hg19) chr11:g.64751664A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751664A>T , CM000673.2:g.64751664A>T GRCh38
NC_000011.9:g.64519136A>T , CM000673.1:g.64519136A>T GRCh37
NC_000011.8:g.64275712A>T NCBI36
NG_013018.1:g.14052T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1769-9T>A MANE Select ENSP00000164139.3:n.1769-9T>A
ENST00000164139.3:c.1769-9T>A ENSP00000164139.3:n.1769-9T>A
ENST00000377432.7:c.1505-9T>A ENSP00000366650.3:n.1505-9T>A
ENST00000462303.1:n.93-9T>A
NM_001164716.1:c.1505-9T>A NP_001158188.1:n.1505-9T>A
NM_005609.2:c.1769-9T>A NP_005600.1:n.1769-9T>A
NM_005609.3:c.1769-9T>A NP_005600.1:n.1769-9T>A
NM_005609.4:c.1769-9T>A MANE Select NP_005600.1:n.1769-9T>A
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