Canonical Allele Identifier: CA2136438578
Gene: PYGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944449G= , CM000676.2:g.50944449G= GRCh38
NC_000014.8:g.51411167G= , CM000676.1:g.51411167G= GRCh37
NC_000014.7:g.50480917G= NCBI36
NG_012796.1:g.5082C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.-46C= MANE Select ENSP00000216392.7:n.-46C=
ENST00000216392.7:c.-46C= ENSP00000216392.7:n.-46C=
ENST00000530336.2:n.22C=
ENST00000532462.5:c.-46C= ENSP00000431657.1:n.-46C=
ENST00000544180.6:c.-46C= ENSP00000443787.1:n.-46C=
NM_001163940.1:c.-46C= NP_001157412.1:n.-46C=
NM_002863.4:c.-46C= NP_002854.3:n.-46C=
NM_002863.5:c.-46C= MANE Select NP_002854.3:n.-46C=
NM_001163940.2:c.-46C= NP_001157412.1:n.-46C=