Canonical Allele Identifier: CA2136414915
Gene: PYGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50909959C= , CM000676.2:g.50909959C= GRCh38
NC_000014.8:g.51376677C= , CM000676.1:g.51376677C= GRCh37
NC_000014.7:g.50446427C= NCBI36
NG_012796.1:g.39572G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.2113G= MANE Select ENSP00000216392.7:p.Gly705=
ENST00000216392.7:c.2113G= ENSP00000216392.7:p.Gly705=
ENST00000532107.2:n.286G=
ENST00000532462.5:c.2113G= ENSP00000431657.1:p.Gly705=
ENST00000544180.6:c.2011G= ENSP00000443787.1:p.Gly671=
NM_001163940.1:c.2011G= NP_001157412.1:p.Gly671=
NM_002863.4:c.2113G= NP_002854.3:p.Gly705=
NM_002863.5:c.2113G= MANE Select NP_002854.3:p.Gly705=
NM_001163940.2:c.2011G= NP_001157412.1:p.Gly671=