Canonical Allele Identifier: CA2614199702
Gene: PYGM HGNC NCBI

Linked Data

gnomAD v4: 11-64747539-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747539T>C , CM000673.2:g.64747539T>C GRCh38
NC_000011.9:g.64515011T>C , CM000673.1:g.64515011T>C GRCh37
NC_000011.8:g.64271587T>C NCBI36
NG_007574.1:g.2918A>G , LRG_100:g.2918A>G
NG_013018.1:g.18177A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2178-181A>G MANE Select ENSP00000164139.3:n.2178-181A>G
ENST00000164139.3:c.2178-181A>G ENSP00000164139.3:n.2178-181A>G
ENST00000377432.7:c.1914-181A>G ENSP00000366650.3:n.1914-181A>G
ENST00000483742.1:n.1350A>G
NM_001164716.1:c.1914-181A>G NP_001158188.1:n.1914-181A>G
NM_005609.2:c.2178-181A>G NP_005600.1:n.2178-181A>G
NM_005609.3:c.2178-181A>G NP_005600.1:n.2178-181A>G
NM_005609.4:c.2178-181A>G MANE Select NP_005600.1:n.2178-181A>G
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