Canonical Allele Identifier: CA9563471
Gene: GYS1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.48993046C>T
GRCh37 chr19:g.49496303C>T
Revel Score:
ENST00000323798 (MANE Select) 0.166
ENST00000263276 0.166
gnomAD v2:
19:49496303 C / T
gnomAD v3:
19:48993046 C / T
gnomAD v4:
chr19-48993046-C-T
Joint Max Group AF 0.00001995 (NFE)
Exomes Max Group AF 0.00002083 (NFE)
ClinVar RCV:
RCV002603737
RCV003456548
ClinVar Variation:
2185282
dbSNP:
755528744
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48993046C>T , CM000681.2:g.48993046C>T GRCh38
NC_000019.9:g.49496303C>T , CM000681.1:g.49496303C>T GRCh37
NC_000019.8:g.54188115C>T NCBI36
NG_012923.1:g.5308G>A
NG_033041.1:g.4148C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.67G>A MANE Select ENSP00000317904.3:p.Asp23Asn
ENST00000263276.6:c.67G>A ENSP00000263276.6:p.Asp23Asn
ENST00000323798.7:c.67G>A ENSP00000317904.3:p.Asp23Asn
ENST00000457974.1:n.238G>A
NM_001161587.1:c.67G>A NP_001155059.1:p.Asp23Asn
NM_002103.4:c.67G>A NP_002094.2:p.Asp23Asn
NR_027763.1:n.308G>A
NM_002103.5:c.67G>A MANE Select NP_002094.2:p.Asp23Asn
NM_001161587.2:c.67G>A NP_001155059.1:p.Asp23Asn
NR_027763.2:n.264G>A
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