Canonical Allele Identifier: CA406764684
Gene: GYS1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.48985544G>A
GRCh37 chr19:g.49488801G>A
Revel Score:
ENST00000323798 (MANE Select) 0.736
ENST00000263276 0.736
ENST00000541188 0.736
ENST00000540532 0.736
gnomAD v2:
19:49488801 G / A
gnomAD v3:
19:48985544 G / A
gnomAD v4:
chr19-48985544-G-A
Joint Max Group AF 0.00000553 (AMR)
Genomes Max Group AF 0.00002261 (AMR)
Exomes Max Group AF 0.00000132 (NFE)
ClinVar RCV:
RCV001923023
ClinVar Variation:
1411994
dbSNP:
1318179540
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48985544G>A , CM000681.2:g.48985544G>A GRCh38
NC_000019.9:g.49488801G>A , CM000681.1:g.49488801G>A GRCh37
NC_000019.8:g.54180613G>A NCBI36
NG_012923.1:g.12810C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.740C>T MANE Select ENSP00000317904.3:p.Ala247Val
ENST00000263276.6:c.548C>T ENSP00000263276.6:p.Ala183Val
ENST00000323798.7:c.740C>T ENSP00000317904.3:p.Ala247Val
NM_001161587.1:c.548C>T NP_001155059.1:p.Ala183Val
NM_002103.4:c.740C>T NP_002094.2:p.Ala247Val
NR_027763.1:n.799C>T
NM_002103.5:c.740C>T MANE Select NP_002094.2:p.Ala247Val
NM_001161587.2:c.548C>T NP_001155059.1:p.Ala183Val
NR_027763.2:n.755C>T
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