Canonical Allele Identifier: CA223889058
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs943705308
gnomAD v4: 11-64759509-T-C
MyVariant Identifiers: chr11:g.64526981T>C (hg19) chr11:g.64759509T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759509T>C , CM000673.2:g.64759509T>C GRCh38
NC_000011.9:g.64526981T>C , CM000673.1:g.64526981T>C GRCh37
NC_000011.8:g.64283557T>C NCBI36
NG_013018.1:g.6207A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.243+147A>G MANE Select ENSP00000164139.3:n.243+147A>G
ENST00000164139.3:c.243+147A>G ENSP00000164139.3:n.243+147A>G
ENST00000377432.7:c.243+147A>G ENSP00000366650.3:n.243+147A>G
NM_001164716.1:c.243+147A>G NP_001158188.1:n.243+147A>G
NM_005609.2:c.243+147A>G NP_005600.1:n.243+147A>G
NM_005609.3:c.243+147A>G NP_005600.1:n.243+147A>G
NM_005609.4:c.243+147A>G MANE Select NP_005600.1:n.243+147A>G
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