Canonical Allele Identifier: CA2586290265

Gene: GYS1

Linked Data

• gnomAD v4: 19-48974484-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974484T>C , CM000681.2:g.48974484T>C	GRCh38
NC_000019.9:g.49477741T>C , CM000681.1:g.49477741T>C	GRCh37
NC_000019.8:g.54169553T>C	NCBI36
NG_012923.1:g.23870A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1422+136A>G MANE Select	ENSP00000317904.3:n.1422+136A>G
ENST00000263276.6:c.1230+136A>G	ENSP00000263276.6:n.1230+136A>G
ENST00000323798.7:c.1422+136A>G	ENSP00000317904.3:n.1422+136A>G
ENST00000472004.5:n.177+136A>G
ENST00000496048.1:n.329+136A>G
NM_001161587.1:c.1230+136A>G	NP_001155059.1:n.1230+136A>G
NM_002103.4:c.1422+136A>G	NP_002094.2:n.1422+136A>G
NR_027763.1:n.1481+136A>G
NM_002103.5:c.1422+136A>G MANE Select	NP_002094.2:n.1422+136A>G
NM_001161587.2:c.1230+136A>G	NP_001155059.1:n.1230+136A>G
NR_027763.2:n.1437+136A>G