Canonical Allele Identifier: CA2136438457
Gene: PYGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944245G= , CM000676.2:g.50944245G= GRCh38
NC_000014.8:g.51410963G= , CM000676.1:g.51410963G= GRCh37
NC_000014.7:g.50480713G= NCBI36
NG_012796.1:g.5286C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.159C= MANE Select ENSP00000216392.7:p.Tyr53=
ENST00000216392.7:c.159C= ENSP00000216392.7:p.Tyr53=
ENST00000530336.2:n.226C=
ENST00000532462.5:c.159C= ENSP00000431657.1:p.Tyr53=
ENST00000544180.6:c.159C= ENSP00000443787.1:p.Tyr53=
NM_001163940.1:c.159C= NP_001157412.1:p.Tyr53=
NM_002863.4:c.159C= NP_002854.3:p.Tyr53=
NM_002863.5:c.159C= MANE Select NP_002854.3:p.Tyr53=
NM_001163940.2:c.159C= NP_001157412.1:p.Tyr53=