Canonical Allele Identifier: CA9562978
Gene: GYS1 HGNC NCBI

Linked Data

dbSNP Id: rs751494565

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48974722del , CM000681.2:g.48974722del GRCh38
NC_000019.9:g.49477979del , CM000681.1:g.49477979del GRCh37
NC_000019.8:g.54169791del NCBI36
NG_012923.1:g.23637del

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.1325del MANE Select ENSP00000317904.3:p.Pro442LeufsTer16
ENST00000263276.6:c.1133del ENSP00000263276.6:p.Pro378LeufsTer16
ENST00000323798.7:c.1325del ENSP00000317904.3:p.Pro442LeufsTer16
ENST00000472004.5:n.80del
ENST00000496048.1:n.232del
NM_001161587.1:c.1133del NP_001155059.1:p.Pro378LeufsTer16
NM_002103.4:c.1325del NP_002094.2:p.Pro442LeufsTer16
NR_027763.1:n.1384del
NM_002103.5:c.1325del MANE Select NP_002094.2:p.Pro442LeufsTer16
NM_001161587.2:c.1133del NP_001155059.1:p.Pro378LeufsTer16
NR_027763.2:n.1340del