Canonical Allele Identifier: CA6079633
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 1149745
ClinVar RCV Id: RCV001490089
dbSNP Id: rs746678142
ExAC: 11:64517904 T / C
gnomAD v2: 11-64517904-T-C
gnomAD v4: 11-64750432-T-C
MyVariant Identifiers: chr11:g.64517904T>C (hg19) chr11:g.64750432T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64750432T>C , CM000673.2:g.64750432T>C GRCh38
NC_000011.9:g.64517904T>C , CM000673.1:g.64517904T>C GRCh37
NC_000011.8:g.64274480T>C NCBI36
NG_007574.1:g.25A>G , LRG_100:g.25A>G
NG_013018.1:g.15284A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.2121A>G MANE Select ENSP00000164139.3:p.Glu707=
ENST00000164139.3:c.2121A>G ENSP00000164139.3:p.Glu707=
ENST00000377432.7:c.1857A>G ENSP00000366650.3:p.Glu619=
NM_001164716.1:c.1857A>G NP_001158188.1:p.Glu619=
NM_005609.2:c.2121A>G NP_005600.1:p.Glu707=
NM_005609.3:c.2121A>G NP_005600.1:p.Glu707=
NM_005609.4:c.2121A>G MANE Select NP_005600.1:p.Glu707=
Search 100 bp 5'
Search 100 bp 3'