Canonical Allele Identifier: CA2136411026
Gene: PYGL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905284G= , CM000676.2:g.50905284G= GRCh38
NC_000014.8:g.51372002G= , CM000676.1:g.51372002G= GRCh37
NC_000014.7:g.50441752G= NCBI36
NG_012796.1:g.44247C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.*108C= MANE Select ENSP00000216392.7:n.*108C=
ENST00000216392.7:c.*108C= ENSP00000216392.7:n.*108C=
ENST00000532462.5:c.2379+2987C= ENSP00000431657.1:n.2379+2987C=
ENST00000544180.6:c.*108C= ENSP00000443787.1:n.*108C=
NM_001163940.1:c.*108C= NP_001157412.1:n.*108C=
NM_002863.4:c.*108C= NP_002854.3:n.*108C=
NM_002863.5:c.*108C= MANE Select NP_002854.3:n.*108C=
NM_001163940.2:c.*108C= NP_001157412.1:n.*108C=
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