Canonical Allele Identifier: CA2586290300
Gene: GYS1 HGNC NCBI

Linked Data

gnomAD v4: 19-48974541-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48974541G>T , CM000681.2:g.48974541G>T GRCh38
NC_000019.9:g.49477798G>T , CM000681.1:g.49477798G>T GRCh37
NC_000019.8:g.54169610G>T NCBI36
NG_012923.1:g.23813C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.1422+79C>A MANE Select ENSP00000317904.3:n.1422+79C>A
ENST00000263276.6:c.1230+79C>A ENSP00000263276.6:n.1230+79C>A
ENST00000323798.7:c.1422+79C>A ENSP00000317904.3:n.1422+79C>A
ENST00000472004.5:n.177+79C>A
ENST00000496048.1:n.329+79C>A
NM_001161587.1:c.1230+79C>A NP_001155059.1:n.1230+79C>A
NM_002103.4:c.1422+79C>A NP_002094.2:n.1422+79C>A
NR_027763.1:n.1481+79C>A
NM_002103.5:c.1422+79C>A MANE Select NP_002094.2:n.1422+79C>A
NM_001161587.2:c.1230+79C>A NP_001155059.1:n.1230+79C>A
NR_027763.2:n.1437+79C>A
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