Canonical Allele Identifier: CA2614192864
Gene: PYGM HGNC NCBI

Linked Data

gnomAD v4: 11-64751570-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751570G>A , CM000673.2:g.64751570G>A GRCh38
NC_000011.9:g.64519042G>A , CM000673.1:g.64519042G>A GRCh37
NC_000011.8:g.64275618G>A NCBI36
NG_013018.1:g.14146C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1827+27C>T MANE Select ENSP00000164139.3:n.1827+27C>T
ENST00000164139.3:c.1827+27C>T ENSP00000164139.3:n.1827+27C>T
ENST00000377432.7:c.1563+27C>T ENSP00000366650.3:n.1563+27C>T
ENST00000462303.1:n.151+27C>T
NM_001164716.1:c.1563+27C>T NP_001158188.1:n.1563+27C>T
NM_005609.2:c.1827+27C>T NP_005600.1:n.1827+27C>T
NM_005609.3:c.1827+27C>T NP_005600.1:n.1827+27C>T
NM_005609.4:c.1827+27C>T MANE Select NP_005600.1:n.1827+27C>T
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