Canonical Allele Identifier: CA9562972
Gene: GYS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 893131
ClinVar RCV Id: RCV001130484
dbSNP Id: rs139974904
ExAC: 19:49477961 G / A
gnomAD v2: 19-49477961-G-A
gnomAD v3: 19-48974704-G-A
gnomAD v4: 19-48974704-G-A
MyVariant Identifiers: chr19:g.49477961G>A (hg19) chr19:g.48974704G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48974704G>A , CM000681.2:g.48974704G>A GRCh38
NC_000019.9:g.49477961G>A , CM000681.1:g.49477961G>A GRCh37
NC_000019.8:g.54169773G>A NCBI36
NG_012923.1:g.23650C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.1338C>T MANE Select ENSP00000317904.3:p.His446=
ENST00000263276.6:c.1146C>T ENSP00000263276.6:p.His382=
ENST00000323798.7:c.1338C>T ENSP00000317904.3:p.His446=
ENST00000472004.5:n.93C>T
ENST00000496048.1:n.245C>T
NM_001161587.1:c.1146C>T NP_001155059.1:p.His382=
NM_002103.4:c.1338C>T NP_002094.2:p.His446=
NR_027763.1:n.1397C>T
NM_002103.5:c.1338C>T MANE Select NP_002094.2:p.His446=
NM_001161587.2:c.1146C>T NP_001155059.1:p.His382=
NR_027763.2:n.1353C>T
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