Canonical Allele Identifier: CA1978919825
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs2058323564
gnomAD v4: 11-64747514-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747514C>T , CM000673.2:g.64747514C>T GRCh38
NC_000011.9:g.64514986C>T , CM000673.1:g.64514986C>T GRCh37
NC_000011.8:g.64271562C>T NCBI36
NG_007574.1:g.2943G>A , LRG_100:g.2943G>A
NG_013018.1:g.18202G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2178-156G>A MANE Select ENSP00000164139.3:n.2178-156G>A
ENST00000164139.3:c.2178-156G>A ENSP00000164139.3:n.2178-156G>A
ENST00000377432.7:c.1914-156G>A ENSP00000366650.3:n.1914-156G>A
ENST00000483742.1:n.1375G>A
NM_001164716.1:c.1914-156G>A NP_001158188.1:n.1914-156G>A
NM_005609.2:c.2178-156G>A NP_005600.1:n.2178-156G>A
NM_005609.3:c.2178-156G>A NP_005600.1:n.2178-156G>A
NM_005609.4:c.2178-156G>A MANE Select NP_005600.1:n.2178-156G>A
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