Canonical Allele Identifier: CA381165548
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64514775G>C (hg19) chr11:g.64747303G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747303G>C , CM000673.2:g.64747303G>C GRCh38
NC_000011.9:g.64514775G>C , CM000673.1:g.64514775G>C GRCh37
NC_000011.8:g.64271351G>C NCBI36
NG_007574.1:g.3154C>G , LRG_100:g.3154C>G
NG_013018.1:g.18413C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.2233C>G MANE Select ENSP00000164139.3:p.Gln745Glu
ENST00000164139.3:c.2233C>G ENSP00000164139.3:p.Gln745Glu
ENST00000377432.7:c.1969C>G ENSP00000366650.3:p.Gln657Glu
ENST00000483742.1:n.1586C>G
NM_001164716.1:c.1969C>G NP_001158188.1:p.Gln657Glu
NM_005609.2:c.2233C>G NP_005600.1:p.Gln745Glu
NM_005609.3:c.2233C>G NP_005600.1:p.Gln745Glu
NM_005609.4:c.2233C>G MANE Select NP_005600.1:p.Gln745Glu
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