Canonical Allele Identifier: CA381165370
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64514758G>C (hg19) chr11:g.64747286G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747286G>C , CM000673.2:g.64747286G>C GRCh38
NC_000011.9:g.64514758G>C , CM000673.1:g.64514758G>C GRCh37
NC_000011.8:g.64271334G>C NCBI36
NG_007574.1:g.3171C>G , LRG_100:g.3171C>G
NG_013018.1:g.18430C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2250C>G MANE Select ENSP00000164139.3:p.Phe750Leu
ENST00000164139.3:c.2250C>G ENSP00000164139.3:p.Phe750Leu
ENST00000377432.7:c.1986C>G ENSP00000366650.3:p.Phe662Leu
ENST00000483742.1:n.1603C>G
NM_001164716.1:c.1986C>G NP_001158188.1:p.Phe662Leu
NM_005609.2:c.2250C>G NP_005600.1:p.Phe750Leu
NM_005609.3:c.2250C>G NP_005600.1:p.Phe750Leu
NM_005609.4:c.2250C>G MANE Select NP_005600.1:p.Phe750Leu
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