Canonical Allele Identifier: CA406765270
Gene: GYS1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.48985948G>A
GRCh37 chr19:g.49489205G>A
Revel Score:
ENST00000323798 (MANE Select) 0.452
ENST00000263276 0.452
ENST00000541188 0.452
ENST00000540532 0.452
ClinVar Allele:
1457462
ClinVar RCV:
RCV001913134
ClinVar Variation:
1401803
dbSNP:
1455481597
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48985948G>A , CM000681.2:g.48985948G>A GRCh38
NC_000019.9:g.49489205G>A , CM000681.1:g.49489205G>A GRCh37
NC_000019.8:g.54181017G>A NCBI36
NG_012923.1:g.12406C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.580C>T MANE Select ENSP00000317904.3:p.Arg194Trp
ENST00000263276.6:c.388C>T ENSP00000263276.6:p.Arg130Trp
ENST00000323798.7:c.580C>T ENSP00000317904.3:p.Arg194Trp
NM_001161587.1:c.388C>T NP_001155059.1:p.Arg130Trp
NM_002103.4:c.580C>T NP_002094.2:p.Arg194Trp
NR_027763.1:n.639C>T
NM_002103.5:c.580C>T MANE Select NP_002094.2:p.Arg194Trp
NM_001161587.2:c.388C>T NP_001155059.1:p.Arg130Trp
NR_027763.2:n.595C>T
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