Canonical Allele Identifier: CA381108786
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 557060
ClinVar RCV Id: RCV000673149
dbSNP Id: rs1555136375
gnomAD v4: 11-64758253-C-T
MyVariant Identifiers: chr11:g.64525725C>T (hg19) chr11:g.64758253C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758253C>T , CM000673.2:g.64758253C>T GRCh38
NC_000011.9:g.64525725C>T , CM000673.1:g.64525725C>T GRCh37
NC_000011.8:g.64282301C>T NCBI36
NG_013018.1:g.7463G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.521G>A MANE Select ENSP00000164139.3:p.Gly174Asp
ENST00000164139.3:c.521G>A ENSP00000164139.3:p.Gly174Asp
ENST00000377432.7:c.257G>A ENSP00000366650.3:p.Gly86Asp
NM_001164716.1:c.257G>A NP_001158188.1:p.Gly86Asp
NM_005609.2:c.521G>A NP_005600.1:p.Gly174Asp
NM_005609.3:c.521G>A NP_005600.1:p.Gly174Asp
NM_005609.4:c.521G>A MANE Select NP_005600.1:p.Gly174Asp
Search 100 bp 5'
Search 100 bp 3'