Canonical Allele Identifier: CA2574865478
Gene: PYGM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747176A>T , CM000673.2:g.64747176A>T GRCh38
NC_000011.9:g.64514648A>T , CM000673.1:g.64514648A>T GRCh37
NC_000011.8:g.64271224A>T NCBI36
NG_007574.1:g.3281T>A , LRG_100:g.3281T>A
NG_013018.1:g.18540T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.2312+48T>A MANE Select ENSP00000164139.3:n.2312+48T>A
ENST00000164139.3:c.2312+48T>A ENSP00000164139.3:n.2312+48T>A
ENST00000377432.7:c.2048+48T>A ENSP00000366650.3:n.2048+48T>A
ENST00000483742.1:n.1665+48T>A
NM_001164716.1:c.2048+48T>A NP_001158188.1:n.2048+48T>A
NM_005609.2:c.2312+48T>A NP_005600.1:n.2312+48T>A
NM_005609.3:c.2312+48T>A NP_005600.1:n.2312+48T>A
NM_005609.4:c.2312+48T>A MANE Select NP_005600.1:n.2312+48T>A
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