Canonical Allele Identifier: CA223889579
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs542353944
gnomAD v2: 11-64527500-G-A
gnomAD v3: 11-64760028-G-A
gnomAD v4: 11-64760028-G-A
MyVariant Identifiers: chr11:g.64527500G>A (hg19) chr11:g.64760028G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64760028G>A , CM000673.2:g.64760028G>A GRCh38
NC_000011.9:g.64527500G>A , CM000673.1:g.64527500G>A GRCh37
NC_000011.8:g.64284076G>A NCBI36
NG_013018.1:g.5688C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.3:c.-130C>T ENSP00000164139.3:n.-130C>T
NM_001164716.1:c.-130C>T NP_001158188.1:n.-130C>T
NM_005609.2:c.-130C>T NP_005600.1:n.-130C>T
NM_005609.3:c.-130C>T NP_005600.1:n.-130C>T
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