Canonical Allele Identifier: CA341910
Gene: PYGL HGNC NCBI

Linked Data

ClinVar Variation Id: 21330
ClinVar RCV Id: RCV000020495
dbSNP Id: rs113993983

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50911804T>A , CM000676.2:g.50911804T>A GRCh38
NC_000014.8:g.51378522T>A , CM000676.1:g.51378522T>A GRCh37
NC_000014.7:g.50448272T>A NCBI36
NG_012796.1:g.37727A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.1895A>T MANE Select ENSP00000216392.7:p.Asn632Ile
ENST00000216392.7:c.1895A>T ENSP00000216392.7:p.Asn632Ile
ENST00000532107.2:n.68A>T
ENST00000532462.5:c.1895A>T ENSP00000431657.1:p.Asn632Ile
ENST00000544180.6:c.1793A>T ENSP00000443787.1:p.Asn598Ile
NM_001163940.1:c.1793A>T NP_001157412.1:p.Asn598Ile
NM_002863.4:c.1895A>T NP_002854.3:p.Asn632Ile
NM_002863.5:c.1895A>T MANE Select NP_002854.3:p.Asn632Ile
NM_001163940.2:c.1793A>T NP_001157412.1:p.Asn598Ile