Canonical Allele Identifier: CA7183891
Gene: PYGL HGNC NCBI

Linked Data

dbSNP Id: rs772395656

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944208C>T , CM000676.2:g.50944208C>T GRCh38
NC_000014.8:g.51410926C>T , CM000676.1:g.51410926C>T GRCh37
NC_000014.7:g.50480676C>T NCBI36
NG_012796.1:g.5323G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.196G>A MANE Select ENSP00000216392.7:p.Gly66Arg
ENST00000216392.7:c.196G>A ENSP00000216392.7:p.Gly66Arg
ENST00000530336.2:n.263G>A
ENST00000532462.5:c.196G>A ENSP00000431657.1:p.Gly66Arg
ENST00000544180.6:c.196G>A ENSP00000443787.1:p.Gly66Arg
NM_001163940.1:c.196G>A NP_001157412.1:p.Gly66Arg
NM_002863.4:c.196G>A NP_002854.3:p.Gly66Arg
NM_002863.5:c.196G>A MANE Select NP_002854.3:p.Gly66Arg
NM_001163940.2:c.196G>A NP_001157412.1:p.Gly66Arg