Canonical Allele Identifier: CA389678950
Gene: PYGL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905463T>A , CM000676.2:g.50905463T>A GRCh38
NC_000014.8:g.51372181T>A , CM000676.1:g.51372181T>A GRCh37
NC_000014.7:g.50441931T>A NCBI36
NG_012796.1:g.44068A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.2473A>T MANE Select ENSP00000216392.7:p.Ile825Phe
ENST00000216392.7:c.2473A>T ENSP00000216392.7:p.Ile825Phe
ENST00000532462.5:c.2379+2808A>T ENSP00000431657.1:n.2379+2808A>T
ENST00000544180.6:c.2371A>T ENSP00000443787.1:p.Ile791Phe
NM_001163940.1:c.2371A>T NP_001157412.1:p.Ile791Phe
NM_002863.4:c.2473A>T NP_002854.3:p.Ile825Phe
NM_002863.5:c.2473A>T MANE Select NP_002854.3:p.Ile825Phe
NM_001163940.2:c.2371A>T NP_001157412.1:p.Ile791Phe