Canonical Allele Identifier: CA633608471

Gene: GYS1

Linked Data

• dbSNP Id: rs1568618224
• gnomAD v2: 19-49478017-G-GATT
• gnomAD v3: 19-48974760-G-GATT
• gnomAD v4: 19-48974760-G-GATT
• MyVariant Identifiers: chr19:g.49478017_49478018insATT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974760_48974761insATT , CM000681.2:g.48974760_48974761insATT	GRCh38
NC_000019.9:g.49478017_49478018insATT , CM000681.1:g.49478017_49478018insATT	GRCh37
NC_000019.8:g.54169829_54169830insATT	NCBI36
NG_012923.1:g.23593_23594insAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1309-28_1309-27insAAT MANE Select	ENSP00000317904.3:n.1309-28_1309-27insAAT
ENST00000263276.6:c.1117-28_1117-27insAAT	ENSP00000263276.6:n.1117-28_1117-27insAAT
ENST00000323798.7:c.1309-28_1309-27insAAT	ENSP00000317904.3:n.1309-28_1309-27insAAT
ENST00000472004.5:n.64-28_64-27insAAT
ENST00000496048.1:n.216-28_216-27insAAT
NM_001161587.1:c.1117-28_1117-27insAAT	NP_001155059.1:n.1117-28_1117-27insAAT
NM_002103.4:c.1309-28_1309-27insAAT	NP_002094.2:n.1309-28_1309-27insAAT
NR_027763.1:n.1368-28_1368-27insAAT
NM_002103.5:c.1309-28_1309-27insAAT MANE Select	NP_002094.2:n.1309-28_1309-27insAAT
NM_001161587.2:c.1117-28_1117-27insAAT	NP_001155059.1:n.1117-28_1117-27insAAT
NR_027763.2:n.1324-28_1324-27insAAT