Canonical Allele Identifier: CA508081617

Gene: GYS1

Linked Data

• dbSNP Id: rs2122477462
• gnomAD v3: 19-48974722-G-A
• gnomAD v4: 19-48974722-G-A
• MyVariant Identifiers: chr19:g.49477979G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974722G>A , CM000681.2:g.48974722G>A	GRCh38
NC_000019.9:g.49477979G>A , CM000681.1:g.49477979G>A	GRCh37
NC_000019.8:g.54169791G>A	NCBI36
NG_012923.1:g.23632C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1320C>T MANE Select	ENSP00000317904.3:p.Phe440=
ENST00000263276.6:c.1128C>T	ENSP00000263276.6:p.Phe376=
ENST00000323798.7:c.1320C>T	ENSP00000317904.3:p.Phe440=
ENST00000472004.5:n.75C>T
ENST00000496048.1:n.227C>T
NM_001161587.1:c.1128C>T	NP_001155059.1:p.Phe376=
NM_002103.4:c.1320C>T	NP_002094.2:p.Phe440=
NR_027763.1:n.1379C>T
NM_002103.5:c.1320C>T MANE Select	NP_002094.2:p.Phe440=
NM_001161587.2:c.1128C>T	NP_001155059.1:p.Phe376=
NR_027763.2:n.1335C>T