Canonical Allele Identifier: CA2136411047
Gene: PYGL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905300A= , CM000676.2:g.50905300A= GRCh38
NC_000014.8:g.51372018A= , CM000676.1:g.51372018A= GRCh37
NC_000014.7:g.50441768A= NCBI36
NG_012796.1:g.44231T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.*92T= MANE Select ENSP00000216392.7:n.*92T=
ENST00000216392.7:c.*92T= ENSP00000216392.7:n.*92T=
ENST00000532462.5:c.2379+2971T= ENSP00000431657.1:n.2379+2971T=
ENST00000544180.6:c.*92T= ENSP00000443787.1:n.*92T=
NM_001163940.1:c.*92T= NP_001157412.1:n.*92T=
NM_002863.4:c.*92T= NP_002854.3:n.*92T=
NM_002863.5:c.*92T= MANE Select NP_002854.3:n.*92T=
NM_001163940.2:c.*92T= NP_001157412.1:n.*92T=
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