Canonical Allele Identifier: CA2136438434
Gene: PYGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944196G= , CM000676.2:g.50944196G= GRCh38
NC_000014.8:g.51410914G= , CM000676.1:g.51410914G= GRCh37
NC_000014.7:g.50480664G= NCBI36
NG_012796.1:g.5335C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.208C= MANE Select ENSP00000216392.7:p.Arg70=
ENST00000216392.7:c.208C= ENSP00000216392.7:p.Arg70=
ENST00000530336.2:n.275C=
ENST00000532462.5:c.208C= ENSP00000431657.1:p.Arg70=
ENST00000544180.6:c.208C= ENSP00000443787.1:p.Arg70=
NM_001163940.1:c.208C= NP_001157412.1:p.Arg70=
NM_002863.4:c.208C= NP_002854.3:p.Arg70=
NM_002863.5:c.208C= MANE Select NP_002854.3:p.Arg70=
NM_001163940.2:c.208C= NP_001157412.1:p.Arg70=