Canonical Allele Identifier: CA309387117

Gene: GYS1

Linked Data

• dbSNP Id: rs34913365
• MyVariant Identifiers: chr19:g.49478022_49478023insG (hg19) ; chr19:g.48974765_48974766insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974767dup , CM000681.2:g.48974767dup	GRCh38
NC_000019.9:g.49478024dup , CM000681.1:g.49478024dup	GRCh37
NC_000019.8:g.54169836dup	NCBI36
NG_012923.1:g.23588dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1309-33dup MANE Select	ENSP00000317904.3:n.1309-33dup
ENST00000263276.6:c.1117-33dup	ENSP00000263276.6:n.1117-33dup
ENST00000323798.7:c.1309-33dup	ENSP00000317904.3:n.1309-33dup
ENST00000472004.5:n.64-33dup
ENST00000496048.1:n.216-33dup
NM_001161587.1:c.1117-33dup	NP_001155059.1:n.1117-33dup
NM_002103.4:c.1309-33dup	NP_002094.2:n.1309-33dup
NR_027763.1:n.1368-33dup
NM_002103.5:c.1309-33dup MANE Select	NP_002094.2:n.1309-33dup
NM_001161587.2:c.1117-33dup	NP_001155059.1:n.1117-33dup
NR_027763.2:n.1324-33dup