Canonical Allele Identifier: CA381111913
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 2105818
ClinVar RCV Id: RCV003045214
gnomAD v4: 11-64759671-A-T
MyVariant Identifiers: chr11:g.64527143A>T (hg19) chr11:g.64759671A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759671A>T , CM000673.2:g.64759671A>T GRCh38
NC_000011.9:g.64527143A>T , CM000673.1:g.64527143A>T GRCh37
NC_000011.8:g.64283719A>T NCBI36
NG_013018.1:g.6045T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.228T>A MANE Select ENSP00000164139.3:p.Tyr76Ter
ENST00000164139.3:c.228T>A ENSP00000164139.3:p.Tyr76Ter
ENST00000377432.7:c.228T>A ENSP00000366650.3:p.Tyr76Ter
NM_001164716.1:c.228T>A NP_001158188.1:p.Tyr76Ter
NM_005609.2:c.228T>A NP_005600.1:p.Tyr76Ter
NM_005609.3:c.228T>A NP_005600.1:p.Tyr76Ter
NM_005609.4:c.228T>A MANE Select NP_005600.1:p.Tyr76Ter
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