Canonical Allele Identifier: CA474958959
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 1939330
ClinVar RCV Id: RCV002666752
dbSNP Id: rs749501772
gnomAD v2: 11-64519108-A-G
gnomAD v4: 11-64751636-A-G
MyVariant Identifiers: chr11:g.64519108A>G (hg19) chr11:g.64751636A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751636A>G , CM000673.2:g.64751636A>G GRCh38
NC_000011.9:g.64519108A>G , CM000673.1:g.64519108A>G GRCh37
NC_000011.8:g.64275684A>G NCBI36
NG_013018.1:g.14080T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1788T>C MANE Select ENSP00000164139.3:p.Asn596=
ENST00000164139.3:c.1788T>C ENSP00000164139.3:p.Asn596=
ENST00000377432.7:c.1524T>C ENSP00000366650.3:p.Asn508=
ENST00000462303.1:n.112T>C
NM_001164716.1:c.1524T>C NP_001158188.1:p.Asn508=
NM_005609.2:c.1788T>C NP_005600.1:p.Asn596=
NM_005609.3:c.1788T>C NP_005600.1:p.Asn596=
NM_005609.4:c.1788T>C MANE Select NP_005600.1:p.Asn596=
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