Canonical Allele Identifier: CA2136416514
Gene: PYGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50911800A= , CM000676.2:g.50911800A= GRCh38
NC_000014.8:g.51378518A= , CM000676.1:g.51378518A= GRCh37
NC_000014.7:g.50448268A= NCBI36
NG_012796.1:g.37731T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.1899T= MANE Select ENSP00000216392.7:p.Asn633=
ENST00000216392.7:c.1899T= ENSP00000216392.7:p.Asn633=
ENST00000532107.2:n.72T=
ENST00000532462.5:c.1899T= ENSP00000431657.1:p.Asn633=
ENST00000544180.6:c.1797T= ENSP00000443787.1:p.Asn599=
NM_001163940.1:c.1797T= NP_001157412.1:p.Asn599=
NM_002863.4:c.1899T= NP_002854.3:p.Asn633=
NM_002863.5:c.1899T= MANE Select NP_002854.3:p.Asn633=
NM_001163940.2:c.1797T= NP_001157412.1:p.Asn599=