Canonical Allele Identifier: CA389679204
Gene: PYGL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905541T>G , CM000676.2:g.50905541T>G GRCh38
NC_000014.8:g.51372259T>G , CM000676.1:g.51372259T>G GRCh37
NC_000014.7:g.50442009T>G NCBI36
NG_012796.1:g.43990A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.2395A>C MANE Select ENSP00000216392.7:p.Asn799His
ENST00000216392.7:c.2395A>C ENSP00000216392.7:p.Asn799His
ENST00000532462.5:c.2379+2730A>C ENSP00000431657.1:n.2379+2730A>C
ENST00000544180.6:c.2293A>C ENSP00000443787.1:p.Asn765His
NM_001163940.1:c.2293A>C NP_001157412.1:p.Asn765His
NM_002863.4:c.2395A>C NP_002854.3:p.Asn799His
NM_002863.5:c.2395A>C MANE Select NP_002854.3:p.Asn799His
NM_001163940.2:c.2293A>C NP_001157412.1:p.Asn765His