Canonical Allele Identifier: CA381110987
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 1180690
ClinVar RCV Id: RCV001814419
dbSNP Id: rs779392056
MyVariant Identifiers: chr11:g.64526089C>A (hg19) chr11:g.64758617C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758617C>A , CM000673.2:g.64758617C>A GRCh38
NC_000011.9:g.64526089C>A , CM000673.1:g.64526089C>A GRCh37
NC_000011.8:g.64282665C>A NCBI36
NG_013018.1:g.7099G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.331G>T MANE Select ENSP00000164139.3:p.Glu111Ter
ENST00000164139.3:c.331G>T ENSP00000164139.3:p.Glu111Ter
ENST00000377432.7:c.244-351G>T ENSP00000366650.3:n.244-351G>T
NM_001164716.1:c.244-351G>T NP_001158188.1:n.244-351G>T
NM_005609.2:c.331G>T NP_005600.1:p.Glu111Ter
NM_005609.3:c.331G>T NP_005600.1:p.Glu111Ter
NM_005609.4:c.331G>T MANE Select NP_005600.1:p.Glu111Ter
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