Canonical Allele Identifier: CA381167613
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64517899A>C (hg19) chr11:g.64750427A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64750427A>C , CM000673.2:g.64750427A>C GRCh38
NC_000011.9:g.64517899A>C , CM000673.1:g.64517899A>C GRCh37
NC_000011.8:g.64274475A>C NCBI36
NG_007574.1:g.30T>G , LRG_100:g.30T>G
NG_013018.1:g.15289T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.2126T>G MANE Select ENSP00000164139.3:p.Phe709Cys
ENST00000164139.3:c.2126T>G ENSP00000164139.3:p.Phe709Cys
ENST00000377432.7:c.1862T>G ENSP00000366650.3:p.Phe621Cys
NM_001164716.1:c.1862T>G NP_001158188.1:p.Phe621Cys
NM_005609.2:c.2126T>G NP_005600.1:p.Phe709Cys
NM_005609.3:c.2126T>G NP_005600.1:p.Phe709Cys
NM_005609.4:c.2126T>G MANE Select NP_005600.1:p.Phe709Cys
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