Canonical Allele Identifier: CA2576844872

Gene: GYS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974773A>T , CM000681.2:g.48974773A>T	GRCh38
NC_000019.9:g.49478030A>T , CM000681.1:g.49478030A>T	GRCh37
NC_000019.8:g.54169842A>T	NCBI36
NG_012923.1:g.23581T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1309-40T>A MANE Select	ENSP00000317904.3:n.1309-40T>A
ENST00000263276.6:c.1117-40T>A	ENSP00000263276.6:n.1117-40T>A
ENST00000323798.7:c.1309-40T>A	ENSP00000317904.3:n.1309-40T>A
ENST00000472004.5:n.64-40T>A
ENST00000496048.1:n.216-40T>A
NM_001161587.1:c.1117-40T>A	NP_001155059.1:n.1117-40T>A
NM_002103.4:c.1309-40T>A	NP_002094.2:n.1309-40T>A
NR_027763.1:n.1368-40T>A
NM_002103.5:c.1309-40T>A MANE Select	NP_002094.2:n.1309-40T>A
NM_001161587.2:c.1117-40T>A	NP_001155059.1:n.1117-40T>A
NR_027763.2:n.1324-40T>A