Canonical Allele Identifier: CA6079896
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 732147
ClinVar RCV Id: RCV000907234
dbSNP Id: rs766082496
ExAC: 11:64521023 C / T
gnomAD v2: 11-64521023-C-T
gnomAD v3: 11-64753551-C-T
gnomAD v4: 11-64753551-C-T
COSMIC: COSM3416108
MyVariant Identifiers: chr11:g.64521023C>T (hg19) chr11:g.64753551C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64753551C>T , CM000673.2:g.64753551C>T GRCh38
NC_000011.9:g.64521023C>T , CM000673.1:g.64521023C>T GRCh37
NC_000011.8:g.64277599C>T NCBI36
NG_013018.1:g.12165G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1371G>A MANE Select ENSP00000164139.3:p.Ala457=
ENST00000164139.3:c.1371G>A ENSP00000164139.3:p.Ala457=
ENST00000377432.7:c.1107G>A ENSP00000366650.3:p.Ala369=
NM_001164716.1:c.1107G>A NP_001158188.1:p.Ala369=
NM_005609.2:c.1371G>A NP_005600.1:p.Ala457=
NM_005609.3:c.1371G>A NP_005600.1:p.Ala457=
NM_005609.4:c.1371G>A MANE Select NP_005600.1:p.Ala457=
Search 100 bp 5'
Search 100 bp 3'