Canonical Allele Identifier: CA474959204
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 1552082
ClinVar RCV Id: RCV002184746
dbSNP Id: rs775978754
gnomAD v4: 11-64753539-G-C
MyVariant Identifiers: chr11:g.64521011G>C (hg19) chr11:g.64753539G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64753539G>C , CM000673.2:g.64753539G>C GRCh38
NC_000011.9:g.64521011G>C , CM000673.1:g.64521011G>C GRCh37
NC_000011.8:g.64277587G>C NCBI36
NG_013018.1:g.12177C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1383C>G MANE Select ENSP00000164139.3:p.Ser461=
ENST00000164139.3:c.1383C>G ENSP00000164139.3:p.Ser461=
ENST00000377432.7:c.1119C>G ENSP00000366650.3:p.Ser373=
NM_001164716.1:c.1119C>G NP_001158188.1:p.Ser373=
NM_005609.2:c.1383C>G NP_005600.1:p.Ser461=
NM_005609.3:c.1383C>G NP_005600.1:p.Ser461=
NM_005609.4:c.1383C>G MANE Select NP_005600.1:p.Ser461=
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