Canonical Allele Identifier: CA2624828784
Gene: PYGL HGNC NCBI

Linked Data

gnomAD v4: 14-50905273-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905273C>T , CM000676.2:g.50905273C>T GRCh38
NC_000014.8:g.51371991C>T , CM000676.1:g.51371991C>T GRCh37
NC_000014.7:g.50441741C>T NCBI36
NG_012796.1:g.44258G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.*119G>A MANE Select ENSP00000216392.7:n.*119G>A
ENST00000216392.7:c.*119G>A ENSP00000216392.7:n.*119G>A
ENST00000532462.5:c.2379+2998G>A ENSP00000431657.1:n.2379+2998G>A
ENST00000544180.6:c.*119G>A ENSP00000443787.1:n.*119G>A
NM_001163940.1:c.*119G>A NP_001157412.1:n.*119G>A
NM_002863.4:c.*119G>A NP_002854.3:n.*119G>A
NM_002863.5:c.*119G>A MANE Select NP_002854.3:n.*119G>A
NM_001163940.2:c.*119G>A NP_001157412.1:n.*119G>A
Search 100 bp 5'
Search 100 bp 3'