Canonical Allele Identifier: CA2136438516
Gene: PYGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944370G= , CM000676.2:g.50944370G= GRCh38
NC_000014.8:g.51411088G= , CM000676.1:g.51411088G= GRCh37
NC_000014.7:g.50480838G= NCBI36
NG_012796.1:g.5161C=

Transcript Alleles

HGVS Amino-acid change
ENST00000216392.8:c.34C= MANE Select ENSP00000216392.7:p.Arg12=
ENST00000216392.7:c.34C= ENSP00000216392.7:p.Arg12=
ENST00000530336.2:n.101C=
ENST00000532462.5:c.34C= ENSP00000431657.1:p.Arg12=
ENST00000544180.6:c.34C= ENSP00000443787.1:p.Arg12=
NM_001163940.1:c.34C= NP_001157412.1:p.Arg12=
NM_002863.4:c.34C= NP_002854.3:p.Arg12=
NM_002863.5:c.34C= MANE Select NP_002854.3:p.Arg12=
NM_001163940.2:c.34C= NP_001157412.1:p.Arg12=