Canonical Allele Identifier: CA6079735
Gene: PYGM HGNC NCBI
ClinVar RCV:
RCV000675629
RCV001103026
ClinVar Variation:
291069
dbSNP:
150622626
gnomAD v2:
11:64519109 T / C
gnomAD v3:
11:64751637 T / C
gnomAD v4:
chr11-64751637-T-C
Joint Max Group AF 0.001962 (AFR)
Genomes Max Group AF 0.00186919 (AFR)
Exomes Max Group AF 0.00183137 (AFR)
MyVariant.info:
GRCh38 chr11:g.64751637T>C
GRCh37 chr11:g.64519109T>C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751637T>C , CM000673.2:g.64751637T>C GRCh38
NC_000011.9:g.64519109T>C , CM000673.1:g.64519109T>C GRCh37
NC_000011.8:g.64275685T>C NCBI36
NG_013018.1:g.14079A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1787A>G MANE Select ENSP00000164139.3:p.Asn596Ser
ENST00000164139.3:c.1787A>G ENSP00000164139.3:p.Asn596Ser
ENST00000377432.7:c.1523A>G ENSP00000366650.3:p.Asn508Ser
ENST00000462303.1:n.111A>G
NM_001164716.1:c.1523A>G NP_001158188.1:p.Asn508Ser
NM_005609.2:c.1787A>G NP_005600.1:p.Asn596Ser
NM_005609.3:c.1787A>G NP_005600.1:p.Asn596Ser
NM_005609.4:c.1787A>G MANE Select NP_005600.1:p.Asn596Ser
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