Canonical Allele Identifier: CA381165527
Gene: PYGM HGNC NCBI

Linked Data

gnomAD v4: 11-64747301-C-G
MyVariant Identifiers: chr11:g.64514773C>G (hg19) chr11:g.64747301C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747301C>G , CM000673.2:g.64747301C>G GRCh38
NC_000011.9:g.64514773C>G , CM000673.1:g.64514773C>G GRCh37
NC_000011.8:g.64271349C>G NCBI36
NG_007574.1:g.3156G>C , LRG_100:g.3156G>C
NG_013018.1:g.18415G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.2235G>C MANE Select ENSP00000164139.3:p.Gln745His
ENST00000164139.3:c.2235G>C ENSP00000164139.3:p.Gln745His
ENST00000377432.7:c.1971G>C ENSP00000366650.3:p.Gln657His
ENST00000483742.1:n.1588G>C
NM_001164716.1:c.1971G>C NP_001158188.1:p.Gln657His
NM_005609.2:c.2235G>C NP_005600.1:p.Gln745His
NM_005609.3:c.2235G>C NP_005600.1:p.Gln745His
NM_005609.4:c.2235G>C MANE Select NP_005600.1:p.Gln745His
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