Canonical Allele Identifier: CA2136438445
Gene: PYGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944220C= , CM000676.2:g.50944220C= GRCh38
NC_000014.8:g.51410938C= , CM000676.1:g.51410938C= GRCh37
NC_000014.7:g.50480688C= NCBI36
NG_012796.1:g.5311G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.184G= MANE Select ENSP00000216392.7:p.Asp62=
ENST00000216392.7:c.184G= ENSP00000216392.7:p.Asp62=
ENST00000530336.2:n.251G=
ENST00000532462.5:c.184G= ENSP00000431657.1:p.Asp62=
ENST00000544180.6:c.184G= ENSP00000443787.1:p.Asp62=
NM_001163940.1:c.184G= NP_001157412.1:p.Asp62=
NM_002863.4:c.184G= NP_002854.3:p.Asp62=
NM_002863.5:c.184G= MANE Select NP_002854.3:p.Asp62=
NM_001163940.2:c.184G= NP_001157412.1:p.Asp62=