Canonical Allele Identifier: CA6079524
Gene: PYGM HGNC NCBI
ClinVar RCV:
RCV000631182
ClinVar Variation:
526617
COSMIC:
COSM4574629
dbSNP:
119103258
gnomAD v2:
11:64514268 A / T
gnomAD v3:
11:64746796 A / T
gnomAD v4:
chr11-64746796-A-T
Joint Max Group AF 0.00030356 (AMR)
Genomes Max Group AF 0.00002268 (AMR)
Exomes Max Group AF 0.00036939 (AMR)
MyVariant.info:
GRCh38 chr11:g.64746796A>T
GRCh37 chr11:g.64514268A>T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64746796A>T , CM000673.2:g.64746796A>T GRCh38
NC_000011.9:g.64514268A>T , CM000673.1:g.64514268A>T GRCh37
NC_000011.8:g.64270844A>T NCBI36
NG_007574.1:g.3661T>A , LRG_100:g.3661T>A
NG_013018.1:g.18920T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2392T>A MANE Select ENSP00000164139.3:p.Trp798Arg
ENST00000164139.3:c.2392T>A ENSP00000164139.3:p.Trp798Arg
ENST00000377432.7:c.2128T>A ENSP00000366650.3:p.Trp710Arg
ENST00000483742.1:n.1745T>A
NM_001164716.1:c.2128T>A NP_001158188.1:p.Trp710Arg
NM_005609.2:c.2392T>A NP_005600.1:p.Trp798Arg
NM_005609.3:c.2392T>A NP_005600.1:p.Trp798Arg
NM_005609.4:c.2392T>A MANE Select NP_005600.1:p.Trp798Arg
Search 100 bp 5'
Search 100 bp 3'