Canonical Allele Identifier: CA6080309
Gene: PYGM HGNC NCBI
ClinVar RCV:
RCV000344345
RCV000443441
RCV000509222
RCV003957578
ClinVar Variation:
305283
dbSNP:
114742918
gnomAD v2:
11:64526090 G / A
gnomAD v3:
11:64758618 G / A
gnomAD v4:
chr11-64758618-G-A
Joint Max Group AF 0.0034136 (NFE)
Genomes Max Group AF 0.00302368 (NFE)
Exomes Max Group AF 0.00341832 (NFE)
MyVariant.info:
GRCh38 chr11:g.64758618G>A
GRCh37 chr11:g.64526090G>A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758618G>A , CM000673.2:g.64758618G>A GRCh38
NC_000011.9:g.64526090G>A , CM000673.1:g.64526090G>A GRCh37
NC_000011.8:g.64282666G>A NCBI36
NG_013018.1:g.7098C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.330C>T MANE Select ENSP00000164139.3:p.Asp110=
ENST00000164139.3:c.330C>T ENSP00000164139.3:p.Asp110=
ENST00000377432.7:c.244-352C>T ENSP00000366650.3:n.244-352C>T
NM_001164716.1:c.244-352C>T NP_001158188.1:n.244-352C>T
NM_005609.2:c.330C>T NP_005600.1:p.Asp110=
NM_005609.3:c.330C>T NP_005600.1:p.Asp110=
NM_005609.4:c.330C>T MANE Select NP_005600.1:p.Asp110=
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