Canonical Allele Identifier: CA2624828814
Gene: PYGL HGNC NCBI

Linked Data

gnomAD v4: 14-50905325-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905325C>T , CM000676.2:g.50905325C>T GRCh38
NC_000014.8:g.51372043C>T , CM000676.1:g.51372043C>T GRCh37
NC_000014.7:g.50441793C>T NCBI36
NG_012796.1:g.44206G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.*67G>A MANE Select ENSP00000216392.7:n.*67G>A
ENST00000216392.7:c.*67G>A ENSP00000216392.7:n.*67G>A
ENST00000532462.5:c.2379+2946G>A ENSP00000431657.1:n.2379+2946G>A
ENST00000544180.6:c.*67G>A ENSP00000443787.1:n.*67G>A
NM_001163940.1:c.*67G>A NP_001157412.1:n.*67G>A
NM_002863.4:c.*67G>A NP_002854.3:n.*67G>A
NM_002863.5:c.*67G>A MANE Select NP_002854.3:n.*67G>A
NM_001163940.2:c.*67G>A NP_001157412.1:n.*67G>A
Search 100 bp 5'
Search 100 bp 3'