Canonical Allele Identifier: CA9562775
Gene: GYS1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.48969851T>C
GRCh37 chr19:g.49473108T>C
Revel Score:
ENST00000323798 (MANE Select) 0.870
ENST00000263276 0.870
ENST00000541188 0.870
ENST00000544287 0.870
gnomAD v2:
19:49473108 T / C
gnomAD v4:
chr19-48969851-T-C
Joint Max Group AF 0.00002104 (SAS)
Exomes Max Group AF 0.00002194 (SAS)
ClinVar RCV:
RCV001944840
ClinVar Variation:
1366761
dbSNP:
760423376
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48969851T>C , CM000681.2:g.48969851T>C GRCh38
NC_000019.9:g.49473108T>C , CM000681.1:g.49473108T>C GRCh37
NC_000019.8:g.54164920T>C NCBI36
NG_012923.1:g.28503A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.1814A>G MANE Select ENSP00000317904.3:p.Tyr605Cys
ENST00000263276.6:c.1622A>G ENSP00000263276.6:p.Tyr541Cys
ENST00000323798.7:c.1814A>G ENSP00000317904.3:p.Tyr605Cys
NM_001161587.1:c.1622A>G NP_001155059.1:p.Tyr541Cys
NM_002103.4:c.1814A>G NP_002094.2:p.Tyr605Cys
NR_027763.1:n.1873A>G
NM_002103.5:c.1814A>G MANE Select NP_002094.2:p.Tyr605Cys
NM_001161587.2:c.1622A>G NP_001155059.1:p.Tyr541Cys
NR_027763.2:n.1829A>G
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