Canonical Allele Identifier: CA9562711

Gene: GYS1

Linked Data

• ClinVar Variation Id: 369281
• ClinVar RCV Id: RCV000323667 ; RCV000359703 ; RCV000417882 ; RCV000963024 ; RCV003409562 ; RCV003950317
• dbSNP Id: rs142265031
• ExAC: 19:49472716 G / A
• gnomAD v2: 19-49472716-G-A
• gnomAD v3: 19-48969459-G-A
• gnomAD v4: 19-48969459-G-A
• MyVariant Identifiers: chr19:g.49472716G>A (hg19) ; chr19:g.48969459G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48969459G>A , CM000681.2:g.48969459G>A	GRCh38
NC_000019.9:g.49472716G>A , CM000681.1:g.49472716G>A	GRCh37
NC_000019.8:g.54164528G>A	NCBI36
NG_012923.1:g.28895C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.2043C>T MANE Select	ENSP00000317904.3:p.Ala681=
ENST00000263276.6:c.1851C>T	ENSP00000263276.6:p.Ala617=
ENST00000323798.7:c.2043C>T	ENSP00000317904.3:p.Ala681=
NM_001161587.1:c.1851C>T	NP_001155059.1:p.Ala617=
NM_002103.4:c.2043C>T	NP_002094.2:p.Ala681=
NR_027763.1:n.2102C>T
NM_002103.5:c.2043C>T MANE Select	NP_002094.2:p.Ala681=
NM_001161587.2:c.1851C>T	NP_001155059.1:p.Ala617=
NR_027763.2:n.2058C>T