Canonical Allele Identifier: CA2136411130
Gene: PYGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905381A= , CM000676.2:g.50905381A= GRCh38
NC_000014.8:g.51372099A= , CM000676.1:g.51372099A= GRCh37
NC_000014.7:g.50441849A= NCBI36
NG_012796.1:g.44150T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.*11T= MANE Select ENSP00000216392.7:n.*11T=
ENST00000216392.7:c.*11T= ENSP00000216392.7:n.*11T=
ENST00000532462.5:c.2379+2890T= ENSP00000431657.1:n.2379+2890T=
ENST00000544180.6:c.*11T= ENSP00000443787.1:n.*11T=
NM_001163940.1:c.*11T= NP_001157412.1:n.*11T=
NM_002863.4:c.*11T= NP_002854.3:n.*11T=
NM_002863.5:c.*11T= MANE Select NP_002854.3:n.*11T=
NM_001163940.2:c.*11T= NP_001157412.1:n.*11T=