Canonical Allele Identifier: CA389699495
Gene: PYGL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944261G>T , CM000676.2:g.50944261G>T GRCh38
NC_000014.8:g.51410979G>T , CM000676.1:g.51410979G>T GRCh37
NC_000014.7:g.50480729G>T NCBI36
NG_012796.1:g.5270C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.143C>A MANE Select ENSP00000216392.7:p.Thr48Asn
ENST00000216392.7:c.143C>A ENSP00000216392.7:p.Thr48Asn
ENST00000530336.2:n.210C>A
ENST00000532462.5:c.143C>A ENSP00000431657.1:p.Thr48Asn
ENST00000544180.6:c.143C>A ENSP00000443787.1:p.Thr48Asn
NM_001163940.1:c.143C>A NP_001157412.1:p.Thr48Asn
NM_002863.4:c.143C>A NP_002854.3:p.Thr48Asn
NM_002863.5:c.143C>A MANE Select NP_002854.3:p.Thr48Asn
NM_001163940.2:c.143C>A NP_001157412.1:p.Thr48Asn