Canonical Allele Identifier: CA252201
Gene: PYGM HGNC NCBI
ClinVar RCV:
RCV000002393
RCV003441700
ClinVar Variation:
2303
dbSNP:
119103256
gnomAD v3:
11:64750557 G / C
gnomAD v4:
chr11-64750557-G-C
Joint Max Group AF 0.00000542 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000455 (NFE)
MyVariant.info:
GRCh38 chr11:g.64750557G>C
GRCh37 chr11:g.64518029G>C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64750557G>C , CM000673.2:g.64750557G>C GRCh38
NC_000011.9:g.64518029G>C , CM000673.1:g.64518029G>C GRCh37
NC_000011.8:g.64274605G>C NCBI36
NG_013018.1:g.15159C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1996C>G MANE Select ENSP00000164139.3:p.Gln666Glu
ENST00000164139.3:c.1996C>G ENSP00000164139.3:p.Gln666Glu
ENST00000377432.7:c.1732C>G ENSP00000366650.3:p.Gln578Glu
NM_001164716.1:c.1732C>G NP_001158188.1:p.Gln578Glu
NM_005609.2:c.1996C>G NP_005600.1:p.Gln666Glu
NM_005609.3:c.1996C>G NP_005600.1:p.Gln666Glu
NM_005609.4:c.1996C>G MANE Select NP_005600.1:p.Gln666Glu
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