Canonical Allele Identifier: CA6080079
Gene: PYGM HGNC NCBI
ClinVar RCV:
RCV000313797
RCV000522784
RCV002229955
ClinVar Variation:
305277
dbSNP:
558267822
gnomAD v2:
11:64522287 G / A
gnomAD v3:
11:64754815 G / A
gnomAD v4:
chr11-64754815-G-A
Joint Max Group AF 0.00205058 (SAS)
Genomes Max Group AF 0.00224806 (SAS)
Exomes Max Group AF 0.00197887 (SAS)
MyVariant.info:
GRCh38 chr11:g.64754815G>A
GRCh37 chr11:g.64522287G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64754815G>A , CM000673.2:g.64754815G>A GRCh38
NC_000011.9:g.64522287G>A , CM000673.1:g.64522287G>A GRCh37
NC_000011.8:g.64278863G>A NCBI36
NG_013018.1:g.10901C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.877C>T MANE Select ENSP00000164139.3:p.Arg293Trp
ENST00000164139.3:c.877C>T ENSP00000164139.3:p.Arg293Trp
ENST00000377432.7:c.613C>T ENSP00000366650.3:p.Arg205Trp
NM_001164716.1:c.613C>T NP_001158188.1:p.Arg205Trp
NM_005609.2:c.877C>T NP_005600.1:p.Arg293Trp
NM_005609.3:c.877C>T NP_005600.1:p.Arg293Trp
NM_005609.4:c.877C>T MANE Select NP_005600.1:p.Arg293Trp
Search 100 bp 5'
Search 100 bp 3'