Canonical Allele Identifier: CA381111987
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs1182739938
gnomAD v3: 11-64759680-C-G
gnomAD v4: 11-64759680-C-G
MyVariant Identifiers: chr11:g.64527152C>G (hg19) chr11:g.64759680C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759680C>G , CM000673.2:g.64759680C>G GRCh38
NC_000011.9:g.64527152C>G , CM000673.1:g.64527152C>G GRCh37
NC_000011.8:g.64283728C>G NCBI36
NG_013018.1:g.6036G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.219G>C MANE Select ENSP00000164139.3:p.Gln73His
ENST00000164139.3:c.219G>C ENSP00000164139.3:p.Gln73His
ENST00000377432.7:c.219G>C ENSP00000366650.3:p.Gln73His
NM_001164716.1:c.219G>C NP_001158188.1:p.Gln73His
NM_005609.2:c.219G>C NP_005600.1:p.Gln73His
NM_005609.3:c.219G>C NP_005600.1:p.Gln73His
NM_005609.4:c.219G>C MANE Select NP_005600.1:p.Gln73His
Search 100 bp 5'
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