Canonical Allele Identifier: CA2586290274

Gene: GYS1

Linked Data

• gnomAD v4: 19-48974496-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974496C>T , CM000681.2:g.48974496C>T	GRCh38
NC_000019.9:g.49477753C>T , CM000681.1:g.49477753C>T	GRCh37
NC_000019.8:g.54169565C>T	NCBI36
NG_012923.1:g.23858G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1422+124G>A MANE Select	ENSP00000317904.3:n.1422+124G>A
ENST00000263276.6:c.1230+124G>A	ENSP00000263276.6:n.1230+124G>A
ENST00000323798.7:c.1422+124G>A	ENSP00000317904.3:n.1422+124G>A
ENST00000472004.5:n.177+124G>A
ENST00000496048.1:n.329+124G>A
NM_001161587.1:c.1230+124G>A	NP_001155059.1:n.1230+124G>A
NM_002103.4:c.1422+124G>A	NP_002094.2:n.1422+124G>A
NR_027763.1:n.1481+124G>A
NM_002103.5:c.1422+124G>A MANE Select	NP_002094.2:n.1422+124G>A
NM_001161587.2:c.1230+124G>A	NP_001155059.1:n.1230+124G>A
NR_027763.2:n.1437+124G>A