Canonical Allele Identifier: CA223889545
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs889782652
gnomAD v2: 11-64527443-G-A
gnomAD v3: 11-64759971-G-A
gnomAD v4: 11-64759971-G-A
MyVariant Identifiers: chr11:g.64527443G>A (hg19) chr11:g.64759971G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759971G>A , CM000673.2:g.64759971G>A GRCh38
NC_000011.9:g.64527443G>A , CM000673.1:g.64527443G>A GRCh37
NC_000011.8:g.64284019G>A NCBI36
NG_013018.1:g.5745C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.-73C>T MANE Select ENSP00000164139.3:n.-73C>T
ENST00000164139.3:c.-73C>T ENSP00000164139.3:n.-73C>T
ENST00000377432.7:c.-73C>T ENSP00000366650.3:n.-73C>T
NM_001164716.1:c.-73C>T NP_001158188.1:n.-73C>T
NM_005609.2:c.-73C>T NP_005600.1:n.-73C>T
NM_005609.3:c.-73C>T NP_005600.1:n.-73C>T
NM_005609.4:c.-73C>T MANE Select NP_005600.1:n.-73C>T
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