Canonical Allele Identifier: CA2136416267
Gene: PYGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50911530T= , CM000676.2:g.50911530T= GRCh38
NC_000014.8:g.51378248T= , CM000676.1:g.51378248T= GRCh37
NC_000014.7:g.50447998T= NCBI36
NG_012796.1:g.38001A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.1969+200A= MANE Select ENSP00000216392.7:n.1969+200A=
ENST00000216392.7:c.1969+200A= ENSP00000216392.7:n.1969+200A=
ENST00000532107.2:n.142+200A=
ENST00000532462.5:c.1969+200A= ENSP00000431657.1:n.1969+200A=
ENST00000544180.6:c.1867+200A= ENSP00000443787.1:n.1867+200A=
NM_001163940.1:c.1867+200A= NP_001157412.1:n.1867+200A=
NM_002863.4:c.1969+200A= NP_002854.3:n.1969+200A=
NM_002863.5:c.1969+200A= MANE Select NP_002854.3:n.1969+200A=
NM_001163940.2:c.1867+200A= NP_001157412.1:n.1867+200A=