Canonical Allele Identifier: CA2136419311
Gene: PYGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50915782A= , CM000676.2:g.50915782A= GRCh38
NC_000014.8:g.51382500A= , CM000676.1:g.51382500A= GRCh37
NC_000014.7:g.50452250A= NCBI36
NG_012796.1:g.33749T=

Transcript Alleles

HGVS Amino-acid change
ENST00000216392.8:c.1239+43T= MANE Select ENSP00000216392.7:n.1239+43T=
ENST00000216392.7:c.1239+43T= ENSP00000216392.7:n.1239+43T=
ENST00000528757.2:n.116+43T=
ENST00000532462.5:c.1239+43T= ENSP00000431657.1:n.1239+43T=
ENST00000544180.6:c.1137+43T= ENSP00000443787.1:n.1137+43T=
NM_001163940.1:c.1137+43T= NP_001157412.1:n.1137+43T=
NM_002863.4:c.1239+43T= NP_002854.3:n.1239+43T=
NM_002863.5:c.1239+43T= MANE Select NP_002854.3:n.1239+43T=
NM_001163940.2:c.1137+43T= NP_001157412.1:n.1137+43T=