Canonical Allele Identifier: CA2136435036
Gene: PYGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50937902C= , CM000676.2:g.50937902C= GRCh38
NC_000014.8:g.51404620C= , CM000676.1:g.51404620C= GRCh37
NC_000014.7:g.50474370C= NCBI36
NG_012796.1:g.11629G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.244-65G= MANE Select ENSP00000216392.7:n.244-65G=
ENST00000216392.7:c.244-65G= ENSP00000216392.7:n.244-65G=
ENST00000530336.2:n.311-65G=
ENST00000532462.5:c.244-65G= ENSP00000431657.1:n.244-65G=
ENST00000544180.6:c.244-2717G= ENSP00000443787.1:n.244-2717G=
NM_001163940.1:c.244-2717G= NP_001157412.1:n.244-2717G=
NM_002863.4:c.244-65G= NP_002854.3:n.244-65G=
NM_002863.5:c.244-65G= MANE Select NP_002854.3:n.244-65G=
NM_001163940.2:c.244-2717G= NP_001157412.1:n.244-2717G=