Canonical Allele Identifier: CA381111945
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 2435312
ClinVar RCV Id: RCV003130366
gnomAD v4: 11-64759675-T-A
MyVariant Identifiers: chr11:g.64527147T>A (hg19) chr11:g.64759675T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759675T>A , CM000673.2:g.64759675T>A GRCh38
NC_000011.9:g.64527147T>A , CM000673.1:g.64527147T>A GRCh37
NC_000011.8:g.64283723T>A NCBI36
NG_013018.1:g.6041A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.224A>T MANE Select ENSP00000164139.3:p.Tyr75Phe
ENST00000164139.3:c.224A>T ENSP00000164139.3:p.Tyr75Phe
ENST00000377432.7:c.224A>T ENSP00000366650.3:p.Tyr75Phe
NM_001164716.1:c.224A>T NP_001158188.1:p.Tyr75Phe
NM_005609.2:c.224A>T NP_005600.1:p.Tyr75Phe
NM_005609.3:c.224A>T NP_005600.1:p.Tyr75Phe
NM_005609.4:c.224A>T MANE Select NP_005600.1:p.Tyr75Phe
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