Canonical Allele Identifier: CA9562993

Gene: GYS1

Linked Data

• dbSNP Id: rs775175414
• ExAC: 19:49478014 A / C
• gnomAD v2: 19-49478014-A-C
• gnomAD v4: 19-48974757-A-C
• MyVariant Identifiers: chr19:g.49478014A>C (hg19) ; chr19:g.48974757A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974757A>C , CM000681.2:g.48974757A>C	GRCh38
NC_000019.9:g.49478014A>C , CM000681.1:g.49478014A>C	GRCh37
NC_000019.8:g.54169826A>C	NCBI36
NG_012923.1:g.23597T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1309-24T>G MANE Select	ENSP00000317904.3:n.1309-24T>G
ENST00000263276.6:c.1117-24T>G	ENSP00000263276.6:n.1117-24T>G
ENST00000323798.7:c.1309-24T>G	ENSP00000317904.3:n.1309-24T>G
ENST00000472004.5:n.64-24T>G
ENST00000496048.1:n.216-24T>G
NM_001161587.1:c.1117-24T>G	NP_001155059.1:n.1117-24T>G
NM_002103.4:c.1309-24T>G	NP_002094.2:n.1309-24T>G
NR_027763.1:n.1368-24T>G
NM_002103.5:c.1309-24T>G MANE Select	NP_002094.2:n.1309-24T>G
NM_001161587.2:c.1117-24T>G	NP_001155059.1:n.1117-24T>G
NR_027763.2:n.1324-24T>G