Canonical Allele Identifier: CA212798
Gene: PYGM HGNC NCBI
ClinVar RCV:
RCV000002406
RCV000454242
RCV001564860
ClinVar Variation:
2316
dbSNP:
764313717
gnomAD v2:
11:64525847 T / C
gnomAD v3:
11:64758375 T / C
gnomAD v4:
chr11-64758375-T-C
Joint Max Group AF 0.00014026 (NFE)
Genomes Max Group AF 0.00010181 (NFE)
Exomes Max Group AF 0.00013889 (NFE)
MyVariant.info:
GRCh38 chr11:g.64758375T>C
GRCh37 chr11:g.64525847T>C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758375T>C , CM000673.2:g.64758375T>C GRCh38
NC_000011.9:g.64525847T>C , CM000673.1:g.64525847T>C GRCh37
NC_000011.8:g.64282423T>C NCBI36
NG_013018.1:g.7341A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.425-26A>G MANE Select ENSP00000164139.3:n.425-26A>G
ENST00000164139.3:c.425-26A>G ENSP00000164139.3:n.425-26A>G
ENST00000377432.7:c.244-109A>G ENSP00000366650.3:n.244-109A>G
NM_001164716.1:c.244-109A>G NP_001158188.1:n.244-109A>G
NM_005609.2:c.425-26A>G NP_005600.1:n.425-26A>G
NM_005609.3:c.425-26A>G NP_005600.1:n.425-26A>G
NM_005609.4:c.425-26A>G MANE Select NP_005600.1:n.425-26A>G
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