Canonical Allele Identifier: CA2505916401
Gene: PYGL HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905271C>T , CM000676.2:g.50905271C>T GRCh38
NC_000014.8:g.51371989C>T , CM000676.1:g.51371989C>T GRCh37
NC_000014.7:g.50441739C>T NCBI36
NG_012796.1:g.44260G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.*121G>A MANE Select ENSP00000216392.7:n.*121G>A
ENST00000216392.7:c.*121G>A ENSP00000216392.7:n.*121G>A
ENST00000532462.5:c.2379+3000G>A ENSP00000431657.1:n.2379+3000G>A
ENST00000544180.6:c.*121G>A ENSP00000443787.1:n.*121G>A
NM_001163940.1:c.*121G>A NP_001157412.1:n.*121G>A
NM_002863.4:c.*121G>A NP_002854.3:n.*121G>A
NM_002863.5:c.*121G>A MANE Select NP_002854.3:n.*121G>A
NM_001163940.2:c.*121G>A NP_001157412.1:n.*121G>A
Search 100 bp 5'
Search 100 bp 3'