Canonical Allele Identifier: CA389678906
Gene: PYGL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905451C>T , CM000676.2:g.50905451C>T GRCh38
NC_000014.8:g.51372169C>T , CM000676.1:g.51372169C>T GRCh37
NC_000014.7:g.50441919C>T NCBI36
NG_012796.1:g.44080G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.2485G>A MANE Select ENSP00000216392.7:p.Glu829Lys
ENST00000216392.7:c.2485G>A ENSP00000216392.7:p.Glu829Lys
ENST00000532462.5:c.2379+2820G>A ENSP00000431657.1:n.2379+2820G>A
ENST00000544180.6:c.2383G>A ENSP00000443787.1:p.Glu795Lys
NM_001163940.1:c.2383G>A NP_001157412.1:p.Glu795Lys
NM_002863.4:c.2485G>A NP_002854.3:p.Glu829Lys
NM_002863.5:c.2485G>A MANE Select NP_002854.3:p.Glu829Lys
NM_001163940.2:c.2383G>A NP_001157412.1:p.Glu795Lys