Canonical Allele Identifier: CA389699475
Gene: PYGL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944256G>A , CM000676.2:g.50944256G>A GRCh38
NC_000014.8:g.51410974G>A , CM000676.1:g.51410974G>A GRCh37
NC_000014.7:g.50480724G>A NCBI36
NG_012796.1:g.5275C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.148C>T MANE Select ENSP00000216392.7:p.Arg50Cys
ENST00000216392.7:c.148C>T ENSP00000216392.7:p.Arg50Cys
ENST00000530336.2:n.215C>T
ENST00000532462.5:c.148C>T ENSP00000431657.1:p.Arg50Cys
ENST00000544180.6:c.148C>T ENSP00000443787.1:p.Arg50Cys
NM_001163940.1:c.148C>T NP_001157412.1:p.Arg50Cys
NM_002863.4:c.148C>T NP_002854.3:p.Arg50Cys
NM_002863.5:c.148C>T MANE Select NP_002854.3:p.Arg50Cys
NM_001163940.2:c.148C>T NP_001157412.1:p.Arg50Cys