Canonical Allele Identifier: CA9562977
Gene: GYS1 HGNC NCBI

Linked Data

dbSNP Id: rs751494565
ExAC: 19:49477973 A / AG
gnomAD v2: 19-49477973-A-AG
gnomAD v4: 19-48974716-A-AG
MyVariant Identifiers: chr19:g.49477974_49477975insG (hg19) chr19:g.49477973_49477974insG (hg19) chr19:g.48974716_48974717insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48974722dup , CM000681.2:g.48974722dup GRCh38
NC_000019.9:g.49477979dup , CM000681.1:g.49477979dup GRCh37
NC_000019.8:g.54169791dup NCBI36
NG_012923.1:g.23637dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.1325dup MANE Select ENSP00000317904.3:p.Val443CysfsTer9
ENST00000263276.6:c.1133dup ENSP00000263276.6:p.Val379CysfsTer9
ENST00000323798.7:c.1325dup ENSP00000317904.3:p.Val443CysfsTer9
ENST00000472004.5:n.80dup
ENST00000496048.1:n.232dup
NM_001161587.1:c.1133dup NP_001155059.1:p.Val379CysfsTer9
NM_002103.4:c.1325dup NP_002094.2:p.Val443CysfsTer9
NR_027763.1:n.1384dup
NM_002103.5:c.1325dup MANE Select NP_002094.2:p.Val443CysfsTer9
NM_001161587.2:c.1133dup NP_001155059.1:p.Val379CysfsTer9
NR_027763.2:n.1340dup
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