Canonical Allele Identifier: CA2136411311
Gene: PYGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905514C= , CM000676.2:g.50905514C= GRCh38
NC_000014.8:g.51372232C= , CM000676.1:g.51372232C= GRCh37
NC_000014.7:g.50441982C= NCBI36
NG_012796.1:g.44017G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.2422G= MANE Select ENSP00000216392.7:p.Ala808=
ENST00000216392.7:c.2422G= ENSP00000216392.7:p.Ala808=
ENST00000532462.5:c.2379+2757G= ENSP00000431657.1:n.2379+2757G=
ENST00000544180.6:c.2320G= ENSP00000443787.1:p.Ala774=
NM_001163940.1:c.2320G= NP_001157412.1:p.Ala774=
NM_002863.4:c.2422G= NP_002854.3:p.Ala808=
NM_002863.5:c.2422G= MANE Select NP_002854.3:p.Ala808=
NM_001163940.2:c.2320G= NP_001157412.1:p.Ala774=