Canonical Allele Identifier: CA389699345
Gene: PYGL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944226C>T , CM000676.2:g.50944226C>T GRCh38
NC_000014.8:g.51410944C>T , CM000676.1:g.51410944C>T GRCh37
NC_000014.7:g.50480694C>T NCBI36
NG_012796.1:g.5305G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.178G>A MANE Select ENSP00000216392.7:p.Val60Met
ENST00000216392.7:c.178G>A ENSP00000216392.7:p.Val60Met
ENST00000530336.2:n.245G>A
ENST00000532462.5:c.178G>A ENSP00000431657.1:p.Val60Met
ENST00000544180.6:c.178G>A ENSP00000443787.1:p.Val60Met
NM_001163940.1:c.178G>A NP_001157412.1:p.Val60Met
NM_002863.4:c.178G>A NP_002854.3:p.Val60Met
NM_002863.5:c.178G>A MANE Select NP_002854.3:p.Val60Met
NM_001163940.2:c.178G>A NP_001157412.1:p.Val60Met