Canonical Allele Identifier: CA2586290320
Gene: GYS1 HGNC NCBI

Linked Data

gnomAD v4: 19-48974575-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48974575C>T , CM000681.2:g.48974575C>T GRCh38
NC_000019.9:g.49477832C>T , CM000681.1:g.49477832C>T GRCh37
NC_000019.8:g.54169644C>T NCBI36
NG_012923.1:g.23779G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000323798.8:c.1422+45G>A MANE Select ENSP00000317904.3:n.1422+45G>A
ENST00000263276.6:c.1230+45G>A ENSP00000263276.6:n.1230+45G>A
ENST00000323798.7:c.1422+45G>A ENSP00000317904.3:n.1422+45G>A
ENST00000472004.5:n.177+45G>A
ENST00000496048.1:n.329+45G>A
NM_001161587.1:c.1230+45G>A NP_001155059.1:n.1230+45G>A
NM_002103.4:c.1422+45G>A NP_002094.2:n.1422+45G>A
NR_027763.1:n.1481+45G>A
NM_002103.5:c.1422+45G>A MANE Select NP_002094.2:n.1422+45G>A
NM_001161587.2:c.1230+45G>A NP_001155059.1:n.1230+45G>A
NR_027763.2:n.1437+45G>A
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