Canonical Allele Identifier: CA2136411364
Gene: PYGL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905565A= , CM000676.2:g.50905565A= GRCh38
NC_000014.8:g.51372283A= , CM000676.1:g.51372283A= GRCh37
NC_000014.7:g.50442033A= NCBI36
NG_012796.1:g.43966T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.2380-9T= MANE Select ENSP00000216392.7:n.2380-9T=
ENST00000216392.7:c.2380-9T= ENSP00000216392.7:n.2380-9T=
ENST00000532462.5:c.2379+2706T= ENSP00000431657.1:n.2379+2706T=
ENST00000544180.6:c.2278-9T= ENSP00000443787.1:n.2278-9T=
NM_001163940.1:c.2278-9T= NP_001157412.1:n.2278-9T=
NM_002863.4:c.2380-9T= NP_002854.3:n.2380-9T=
NM_002863.5:c.2380-9T= MANE Select NP_002854.3:n.2380-9T=
NM_001163940.2:c.2278-9T= NP_001157412.1:n.2278-9T=
Search 100 bp 5'
Search 100 bp 3'