Canonical Allele Identifier: CA6080166
Gene: PYGM HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.64755567G>A
GRCh37 chr11:g.64523039G>A
gnomAD v2:
11:64523039 G / A
gnomAD v4:
chr11-64755567-G-A
Joint Max Group AF 0.00000247 (NFE)
Exomes Max Group AF 0.00000262 (NFE)
ClinVar RCV:
RCV000595437
RCV001443981
ClinVar Variation:
500683
dbSNP:
776779910
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64755567G>A , CM000673.2:g.64755567G>A GRCh38
NC_000011.9:g.64523039G>A , CM000673.1:g.64523039G>A GRCh37
NC_000011.8:g.64279615G>A NCBI36
NG_013018.1:g.10149C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.661-9C>T MANE Select ENSP00000164139.3:n.661-9C>T
ENST00000164139.3:c.661-9C>T ENSP00000164139.3:n.661-9C>T
ENST00000377432.7:c.397-9C>T ENSP00000366650.3:n.397-9C>T
NM_001164716.1:c.397-9C>T NP_001158188.1:n.397-9C>T
NM_005609.2:c.661-9C>T NP_005600.1:n.661-9C>T
NM_005609.3:c.661-9C>T NP_005600.1:n.661-9C>T
NM_005609.4:c.661-9C>T MANE Select NP_005600.1:n.661-9C>T
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