Canonical Allele Identifier: CA2136438380
Gene: PYGL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944118G= , CM000676.2:g.50944118G= GRCh38
NC_000014.8:g.51410836G= , CM000676.1:g.51410836G= GRCh37
NC_000014.7:g.50480586G= NCBI36
NG_012796.1:g.5413C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.243+43C= MANE Select ENSP00000216392.7:n.243+43C=
ENST00000216392.7:c.243+43C= ENSP00000216392.7:n.243+43C=
ENST00000530336.2:n.310+43C=
ENST00000532462.5:c.243+43C= ENSP00000431657.1:n.243+43C=
ENST00000544180.6:c.243+43C= ENSP00000443787.1:n.243+43C=
NM_001163940.1:c.243+43C= NP_001157412.1:n.243+43C=
NM_002863.4:c.243+43C= NP_002854.3:n.243+43C=
NM_002863.5:c.243+43C= MANE Select NP_002854.3:n.243+43C=
NM_001163940.2:c.243+43C= NP_001157412.1:n.243+43C=
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