Canonical Allele Identifier: CA2614192811
Gene: PYGM HGNC NCBI

Linked Data

gnomAD v4: 11-64751554-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751554A>C , CM000673.2:g.64751554A>C GRCh38
NC_000011.9:g.64519026A>C , CM000673.1:g.64519026A>C GRCh37
NC_000011.8:g.64275602A>C NCBI36
NG_013018.1:g.14162T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.1827+43T>G MANE Select ENSP00000164139.3:n.1827+43T>G
ENST00000164139.3:c.1827+43T>G ENSP00000164139.3:n.1827+43T>G
ENST00000377432.7:c.1563+43T>G ENSP00000366650.3:n.1563+43T>G
ENST00000462303.1:n.151+43T>G
NM_001164716.1:c.1563+43T>G NP_001158188.1:n.1563+43T>G
NM_005609.2:c.1827+43T>G NP_005600.1:n.1827+43T>G
NM_005609.3:c.1827+43T>G NP_005600.1:n.1827+43T>G
NM_005609.4:c.1827+43T>G MANE Select NP_005600.1:n.1827+43T>G
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