Canonical Allele Identifier: CA389678929
Gene: PYGL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905457T>G , CM000676.2:g.50905457T>G GRCh38
NC_000014.8:g.51372175T>G , CM000676.1:g.51372175T>G GRCh37
NC_000014.7:g.50441925T>G NCBI36
NG_012796.1:g.44074A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.2479A>C MANE Select ENSP00000216392.7:p.Asn827His
ENST00000216392.7:c.2479A>C ENSP00000216392.7:p.Asn827His
ENST00000532462.5:c.2379+2814A>C ENSP00000431657.1:n.2379+2814A>C
ENST00000544180.6:c.2377A>C ENSP00000443787.1:p.Asn793His
NM_001163940.1:c.2377A>C NP_001157412.1:p.Asn793His
NM_002863.4:c.2479A>C NP_002854.3:p.Asn827His
NM_002863.5:c.2479A>C MANE Select NP_002854.3:p.Asn827His
NM_001163940.2:c.2377A>C NP_001157412.1:p.Asn793His