Canonical Allele Identifier: CA2586290353
Gene: GYS1 HGNC NCBI

Linked Data

gnomAD v4: 19-48974751-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48974751A>G , CM000681.2:g.48974751A>G GRCh38
NC_000019.9:g.49478008A>G , CM000681.1:g.49478008A>G GRCh37
NC_000019.8:g.54169820A>G NCBI36
NG_012923.1:g.23603T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.1309-18T>C MANE Select ENSP00000317904.3:n.1309-18T>C
ENST00000263276.6:c.1117-18T>C ENSP00000263276.6:n.1117-18T>C
ENST00000323798.7:c.1309-18T>C ENSP00000317904.3:n.1309-18T>C
ENST00000472004.5:n.64-18T>C
ENST00000496048.1:n.216-18T>C
NM_001161587.1:c.1117-18T>C NP_001155059.1:n.1117-18T>C
NM_002103.4:c.1309-18T>C NP_002094.2:n.1309-18T>C
NR_027763.1:n.1368-18T>C
NM_002103.5:c.1309-18T>C MANE Select NP_002094.2:n.1309-18T>C
NM_001161587.2:c.1117-18T>C NP_001155059.1:n.1117-18T>C
NR_027763.2:n.1324-18T>C
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