Canonical Allele Identifier: CA2136434747
Gene: PYGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50937637T= , CM000676.2:g.50937637T= GRCh38
NC_000014.8:g.51404355T= , CM000676.1:g.51404355T= GRCh37
NC_000014.7:g.50474105T= NCBI36
NG_012796.1:g.11894A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.345+99A= MANE Select ENSP00000216392.7:n.345+99A=
ENST00000216392.7:c.345+99A= ENSP00000216392.7:n.345+99A=
ENST00000530336.2:n.412+99A=
ENST00000532462.5:c.345+99A= ENSP00000431657.1:n.345+99A=
ENST00000544180.6:c.244-2452A= ENSP00000443787.1:n.244-2452A=
NM_001163940.1:c.244-2452A= NP_001157412.1:n.244-2452A=
NM_002863.4:c.345+99A= NP_002854.3:n.345+99A=
NM_002863.5:c.345+99A= MANE Select NP_002854.3:n.345+99A=
NM_001163940.2:c.244-2452A= NP_001157412.1:n.244-2452A=