Canonical Allele Identifier: CA341904
Gene: PYGL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 21327
ClinVar RCV Id: RCV000020492
dbSNP Id: rs113993978

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50915869G>A , CM000676.2:g.50915869G>A GRCh38
NC_000014.8:g.51382587G>A , CM000676.1:g.51382587G>A GRCh37
NC_000014.7:g.50452337G>A NCBI36
NG_012796.1:g.33662C>T

Transcript Alleles

HGVS Amino-acid change
NM_001163940.1:c.1093C>T VV NP_001157412.1:p.Arg365Ter
NM_002863.4:c.1195C>T VV NP_002854.3:p.Arg399Ter
NM_002863.5:c.1195C>T VV MANE Preferred
ENST00000216392.7:c.1195C>T ENSP00000216392.7:p.Arg399Ter
ENST00000528757.2:n.72C>T
ENST00000532462.5:c.1195C>T ENSP00000431657.1:p.Arg399Ter
ENST00000544180.6:c.1093C>T ENSP00000443787.1:p.Arg365Ter