Canonical Allele Identifier: CA2586290301

Gene: GYS1

Linked Data

• gnomAD v4: 19-48974542-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974542G>A , CM000681.2:g.48974542G>A	GRCh38
NC_000019.9:g.49477799G>A , CM000681.1:g.49477799G>A	GRCh37
NC_000019.8:g.54169611G>A	NCBI36
NG_012923.1:g.23812C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1422+78C>T MANE Select	ENSP00000317904.3:n.1422+78C>T
ENST00000263276.6:c.1230+78C>T	ENSP00000263276.6:n.1230+78C>T
ENST00000323798.7:c.1422+78C>T	ENSP00000317904.3:n.1422+78C>T
ENST00000472004.5:n.177+78C>T
ENST00000496048.1:n.329+78C>T
NM_001161587.1:c.1230+78C>T	NP_001155059.1:n.1230+78C>T
NM_002103.4:c.1422+78C>T	NP_002094.2:n.1422+78C>T
NR_027763.1:n.1481+78C>T
NM_002103.5:c.1422+78C>T MANE Select	NP_002094.2:n.1422+78C>T
NM_001161587.2:c.1230+78C>T	NP_001155059.1:n.1230+78C>T
NR_027763.2:n.1437+78C>T