Canonical Allele Identifier: CA2840305683
Gene: PYGM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758610dup , CM000673.2:g.64758610dup GRCh38
NC_000011.9:g.64526082dup , CM000673.1:g.64526082dup GRCh37
NC_000011.8:g.64282658dup NCBI36
NG_013018.1:g.7107dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.339dup MANE Select ENSP00000164139.3:p.Tyr114LeufsTer14
ENST00000164139.3:c.339dup ENSP00000164139.3:p.Tyr114LeufsTer14
ENST00000377432.7:c.244-343dup ENSP00000366650.3:n.244-343dup
NM_001164716.1:c.244-343dup NP_001158188.1:n.244-343dup
NM_005609.2:c.339dup NP_005600.1:p.Tyr114LeufsTer14
NM_005609.3:c.339dup NP_005600.1:p.Tyr114LeufsTer14
NM_005609.4:c.339dup MANE Select NP_005600.1:p.Tyr114LeufsTer14
Search 100 bp 5'
Search 100 bp 3'