Canonical Allele Identifier: CA389699139
Gene: PYGL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944178A>T , CM000676.2:g.50944178A>T GRCh38
NC_000014.8:g.51410896A>T , CM000676.1:g.51410896A>T GRCh37
NC_000014.7:g.50480646A>T NCBI36
NG_012796.1:g.5353T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.226T>A MANE Select ENSP00000216392.7:p.Tyr76Asn
ENST00000216392.7:c.226T>A ENSP00000216392.7:p.Tyr76Asn
ENST00000530336.2:n.293T>A
ENST00000532462.5:c.226T>A ENSP00000431657.1:p.Tyr76Asn
ENST00000544180.6:c.226T>A ENSP00000443787.1:p.Tyr76Asn
NM_001163940.1:c.226T>A NP_001157412.1:p.Tyr76Asn
NM_002863.4:c.226T>A NP_002854.3:p.Tyr76Asn
NM_002863.5:c.226T>A MANE Select NP_002854.3:p.Tyr76Asn
NM_001163940.2:c.226T>A NP_001157412.1:p.Tyr76Asn