Canonical Allele Identifier: CA2576844870

Gene: GYS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974771G>T , CM000681.2:g.48974771G>T	GRCh38
NC_000019.9:g.49478028G>T , CM000681.1:g.49478028G>T	GRCh37
NC_000019.8:g.54169840G>T	NCBI36
NG_012923.1:g.23583C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1309-38C>A MANE Select	ENSP00000317904.3:n.1309-38C>A
ENST00000263276.6:c.1117-38C>A	ENSP00000263276.6:n.1117-38C>A
ENST00000323798.7:c.1309-38C>A	ENSP00000317904.3:n.1309-38C>A
ENST00000472004.5:n.64-38C>A
ENST00000496048.1:n.216-38C>A
NM_001161587.1:c.1117-38C>A	NP_001155059.1:n.1117-38C>A
NM_002103.4:c.1309-38C>A	NP_002094.2:n.1309-38C>A
NR_027763.1:n.1368-38C>A
NM_002103.5:c.1309-38C>A MANE Select	NP_002094.2:n.1309-38C>A
NM_001161587.2:c.1117-38C>A	NP_001155059.1:n.1117-38C>A
NR_027763.2:n.1324-38C>A