Canonical Allele Identifier: CA406761570
Gene: GYS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 947297
ClinVar RCV Id: RCV001218343
dbSNP Id: rs1306162963
gnomAD v2: 19-49477887-T-C
gnomAD v4: 19-48974630-T-C
MyVariant Identifiers: chr19:g.49477887T>C (hg19) chr19:g.48974630T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48974630T>C , CM000681.2:g.48974630T>C GRCh38
NC_000019.9:g.49477887T>C , CM000681.1:g.49477887T>C GRCh37
NC_000019.8:g.54169699T>C NCBI36
NG_012923.1:g.23724A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.1412A>G MANE Select ENSP00000317904.3:p.Asp471Gly
ENST00000263276.6:c.1220A>G ENSP00000263276.6:p.Asp407Gly
ENST00000323798.7:c.1412A>G ENSP00000317904.3:p.Asp471Gly
ENST00000472004.5:n.167A>G
ENST00000496048.1:n.319A>G
NM_001161587.1:c.1220A>G NP_001155059.1:p.Asp407Gly
NM_002103.4:c.1412A>G NP_002094.2:p.Asp471Gly
NR_027763.1:n.1471A>G
NM_002103.5:c.1412A>G MANE Select NP_002094.2:p.Asp471Gly
NM_001161587.2:c.1220A>G NP_001155059.1:p.Asp407Gly
NR_027763.2:n.1427A>G
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