Canonical Allele Identifier: CA9562630
Gene: GYS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 329792
dbSNP Id: rs117997270

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48968380C>T , CM000681.2:g.48968380C>T GRCh38
NC_000019.9:g.49471637C>T , CM000681.1:g.49471637C>T GRCh37
NC_000019.8:g.54163449C>T NCBI36
NG_008152.1:g.8072C>T
NG_012923.1:g.29974G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000323798.8:c.*908G>A MANE Select ENSP00000317904.3:n.*908G>A
ENST00000263276.6:c.*908G>A ENSP00000263276.6:n.*908G>A
ENST00000323798.7:c.*908G>A ENSP00000317904.3:n.*908G>A
NM_001161587.1:c.*908G>A NP_001155059.1:n.*908G>A
NM_002103.4:c.*908G>A NP_002094.2:n.*908G>A
NR_027763.1:n.3181G>A
NM_002103.5:c.*908G>A MANE Select NP_002094.2:n.*908G>A
NM_001161587.2:c.*908G>A NP_001155059.1:n.*908G>A
NR_027763.2:n.3137G>A