Canonical Allele Identifier: CA381111915
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs1466112694
gnomAD v3: 11-64759672-T-A
gnomAD v4: 11-64759672-T-A
MyVariant Identifiers: chr11:g.64527144T>A (hg19) chr11:g.64759672T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759672T>A , CM000673.2:g.64759672T>A GRCh38
NC_000011.9:g.64527144T>A , CM000673.1:g.64527144T>A GRCh37
NC_000011.8:g.64283720T>A NCBI36
NG_013018.1:g.6044A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.227A>T MANE Select ENSP00000164139.3:p.Tyr76Phe
ENST00000164139.3:c.227A>T ENSP00000164139.3:p.Tyr76Phe
ENST00000377432.7:c.227A>T ENSP00000366650.3:p.Tyr76Phe
NM_001164716.1:c.227A>T NP_001158188.1:p.Tyr76Phe
NM_005609.2:c.227A>T NP_005600.1:p.Tyr76Phe
NM_005609.3:c.227A>T NP_005600.1:p.Tyr76Phe
NM_005609.4:c.227A>T MANE Select NP_005600.1:p.Tyr76Phe
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