Canonical Allele Identifier: CA2340166031
Gene: GYS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48974569C= , CM000681.2:g.48974569C= GRCh38
NC_000019.9:g.49477826C= , CM000681.1:g.49477826C= GRCh37
NC_000019.8:g.54169638C= NCBI36
NG_012923.1:g.23785G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.1422+51G= MANE Select ENSP00000317904.3:n.1422+51G=
ENST00000263276.6:c.1230+51G= ENSP00000263276.6:n.1230+51G=
ENST00000323798.7:c.1422+51G= ENSP00000317904.3:n.1422+51G=
ENST00000472004.5:n.177+51G=
ENST00000496048.1:n.329+51G=
NM_001161587.1:c.1230+51G= NP_001155059.1:n.1230+51G=
NM_002103.4:c.1422+51G= NP_002094.2:n.1422+51G=
NR_027763.1:n.1481+51G=
NM_002103.5:c.1422+51G= MANE Select NP_002094.2:n.1422+51G=
NM_001161587.2:c.1230+51G= NP_001155059.1:n.1230+51G=
NR_027763.2:n.1437+51G=
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