Canonical Allele Identifier: CA9562718
Gene: GYS1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.48969488C>T
GRCh37 chr19:g.49472745C>T
Revel Score:
ENST00000323798 (MANE Select) 0.117
ENST00000263276 0.117
ENST00000541188 0.117
ENST00000544287 0.117
gnomAD v2:
19:49472745 C / T
gnomAD v3:
19:48969488 C / T
gnomAD v4:
chr19-48969488-C-T
Joint Max Group AF 0.0010384 (AFR)
Genomes Max Group AF 0.00098009 (AFR)
Exomes Max Group AF 0.00092996 (AFR)
ClinVar Allele:
929015
ClinVar RCV:
RCV001216147
RCV001587233
ClinVar Variation:
945494
dbSNP:
145448665
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48969488C>T , CM000681.2:g.48969488C>T GRCh38
NC_000019.9:g.49472745C>T , CM000681.1:g.49472745C>T GRCh37
NC_000019.8:g.54164557C>T NCBI36
NG_012923.1:g.28866G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.2014G>A MANE Select ENSP00000317904.3:p.Gly672Ser
ENST00000263276.6:c.1822G>A ENSP00000263276.6:p.Gly608Ser
ENST00000323798.7:c.2014G>A ENSP00000317904.3:p.Gly672Ser
NM_001161587.1:c.1822G>A NP_001155059.1:p.Gly608Ser
NM_002103.4:c.2014G>A NP_002094.2:p.Gly672Ser
NR_027763.1:n.2073G>A
NM_002103.5:c.2014G>A MANE Select NP_002094.2:p.Gly672Ser
NM_001161587.2:c.1822G>A NP_001155059.1:p.Gly608Ser
NR_027763.2:n.2029G>A
Search 100 bp 5'
Search 100 bp 3'