Canonical Allele Identifier: CA1978919660
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs1592405997
gnomAD v4: 11-64747425-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747425T>C , CM000673.2:g.64747425T>C GRCh38
NC_000011.9:g.64514897T>C , CM000673.1:g.64514897T>C GRCh37
NC_000011.8:g.64271473T>C NCBI36
NG_007574.1:g.3032A>G , LRG_100:g.3032A>G
NG_013018.1:g.18291A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2178-67A>G MANE Select ENSP00000164139.3:n.2178-67A>G
ENST00000164139.3:c.2178-67A>G ENSP00000164139.3:n.2178-67A>G
ENST00000377432.7:c.1914-67A>G ENSP00000366650.3:n.1914-67A>G
ENST00000483742.1:n.1464A>G
NM_001164716.1:c.1914-67A>G NP_001158188.1:n.1914-67A>G
NM_005609.2:c.2178-67A>G NP_005600.1:n.2178-67A>G
NM_005609.3:c.2178-67A>G NP_005600.1:n.2178-67A>G
NM_005609.4:c.2178-67A>G MANE Select NP_005600.1:n.2178-67A>G
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