Canonical Allele Identifier: CA2136438425
Gene: PYGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944180T= , CM000676.2:g.50944180T= GRCh38
NC_000014.8:g.51410898T= , CM000676.1:g.51410898T= GRCh37
NC_000014.7:g.50480648T= NCBI36
NG_012796.1:g.5351A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.224A= MANE Select ENSP00000216392.7:p.Tyr75=
ENST00000216392.7:c.224A= ENSP00000216392.7:p.Tyr75=
ENST00000530336.2:n.291A=
ENST00000532462.5:c.224A= ENSP00000431657.1:p.Tyr75=
ENST00000544180.6:c.224A= ENSP00000443787.1:p.Tyr75=
NM_001163940.1:c.224A= NP_001157412.1:p.Tyr75=
NM_002863.4:c.224A= NP_002854.3:p.Tyr75=
NM_002863.5:c.224A= MANE Select NP_002854.3:p.Tyr75=
NM_001163940.2:c.224A= NP_001157412.1:p.Tyr75=