Canonical Allele Identifier: CA474958591
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64514773C>T (hg19)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.2235G>A MANE Select ENSP00000164139.3:p.Gln745=
ENST00000164139.3:c.2235G>A ENSP00000164139.3:p.Gln745=
ENST00000377432.7:c.1971G>A ENSP00000366650.3:p.Gln657=
ENST00000483742.1:n.1588G>A
NM_001164716.1:c.1971G>A NP_001158188.1:p.Gln657=
NM_005609.2:c.2235G>A NP_005600.1:p.Gln745=
NM_005609.3:c.2235G>A NP_005600.1:p.Gln745=
NM_005609.4:c.2235G>A MANE Select NP_005600.1:p.Gln745=
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