Canonical Allele Identifier: CA2624828803
Gene: PYGL HGNC NCBI

Linked Data

gnomAD v4: 14-50905306-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905306T>G , CM000676.2:g.50905306T>G GRCh38
NC_000014.8:g.51372024T>G , CM000676.1:g.51372024T>G GRCh37
NC_000014.7:g.50441774T>G NCBI36
NG_012796.1:g.44225A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.*86A>C MANE Select ENSP00000216392.7:n.*86A>C
ENST00000216392.7:c.*86A>C ENSP00000216392.7:n.*86A>C
ENST00000532462.5:c.2379+2965A>C ENSP00000431657.1:n.2379+2965A>C
ENST00000544180.6:c.*86A>C ENSP00000443787.1:n.*86A>C
NM_001163940.1:c.*86A>C NP_001157412.1:n.*86A>C
NM_002863.4:c.*86A>C NP_002854.3:n.*86A>C
NM_002863.5:c.*86A>C MANE Select NP_002854.3:n.*86A>C
NM_001163940.2:c.*86A>C NP_001157412.1:n.*86A>C
Search 100 bp 5'
Search 100 bp 3'