Canonical Allele Identifier: CA9562632

Gene: GYS1

Linked Data

• ClinVar Variation Id: 329794
• ClinVar RCV Id: RCV000266955 ; RCV000324564 ; RCV000387720 ; RCV001778920
• dbSNP Id: rs75797604
• ExAC: 19:49471704 T / C
• gnomAD v2: 19-49471704-T-C
• gnomAD v3: 19-48968447-T-C
• gnomAD v4: 19-48968447-T-C
• MyVariant Identifiers: chr19:g.49471704T>C (hg19) ; chr19:g.48968447T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48968447T>C , CM000681.2:g.48968447T>C	GRCh38
NC_000019.9:g.49471704T>C , CM000681.1:g.49471704T>C	GRCh37
NC_000019.8:g.54163516T>C	NCBI36
NG_008152.1:g.8139T>C
NG_012923.1:g.29907A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.*841A>G MANE Select	ENSP00000317904.3:n.*841A>G
ENST00000263276.6:c.*841A>G	ENSP00000263276.6:n.*841A>G
ENST00000323798.7:c.*841A>G	ENSP00000317904.3:n.*841A>G
NM_001161587.1:c.*841A>G	NP_001155059.1:n.*841A>G
NM_002103.4:c.*841A>G	NP_002094.2:n.*841A>G
NR_027763.1:n.3114A>G
NM_002103.5:c.*841A>G MANE Select	NP_002094.2:n.*841A>G
NM_001161587.2:c.*841A>G	NP_001155059.1:n.*841A>G
NR_027763.2:n.3070A>G