Canonical Allele Identifier: CA6079685
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 1306985
ClinVar RCV Id: RCV001772443 RCV002544018
dbSNP Id: rs201591132
ExAC: 11:64518884 C / T
gnomAD v2: 11-64518884-C-T
gnomAD v3: 11-64751412-C-T
gnomAD v4: 11-64751412-C-T
MyVariant Identifiers: chr11:g.64518884C>T (hg19) chr11:g.64751412C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751412C>T , CM000673.2:g.64751412C>T GRCh38
NC_000011.9:g.64518884C>T , CM000673.1:g.64518884C>T GRCh37
NC_000011.8:g.64275460C>T NCBI36
NG_013018.1:g.14304G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1882G>A MANE Select ENSP00000164139.3:p.Gly628Arg
ENST00000164139.3:c.1882G>A ENSP00000164139.3:p.Gly628Arg
ENST00000377432.7:c.1618G>A ENSP00000366650.3:p.Gly540Arg
ENST00000462303.1:n.206G>A
NM_001164716.1:c.1618G>A NP_001158188.1:p.Gly540Arg
NM_005609.2:c.1882G>A NP_005600.1:p.Gly628Arg
NM_005609.3:c.1882G>A NP_005600.1:p.Gly628Arg
NM_005609.4:c.1882G>A MANE Select NP_005600.1:p.Gly628Arg
Search 100 bp 5'
Search 100 bp 3'