Canonical Allele Identifier: CA2340166044
Gene: GYS1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48974593A= , CM000681.2:g.48974593A= GRCh38
NC_000019.9:g.49477850A= , CM000681.1:g.49477850A= GRCh37
NC_000019.8:g.54169662A= NCBI36
NG_012923.1:g.23761T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.1422+27T= MANE Select ENSP00000317904.3:n.1422+27T=
ENST00000263276.6:c.1230+27T= ENSP00000263276.6:n.1230+27T=
ENST00000323798.7:c.1422+27T= ENSP00000317904.3:n.1422+27T=
ENST00000472004.5:n.177+27T=
ENST00000496048.1:n.329+27T=
NM_001161587.1:c.1230+27T= NP_001155059.1:n.1230+27T=
NM_002103.4:c.1422+27T= NP_002094.2:n.1422+27T=
NR_027763.1:n.1481+27T=
NM_002103.5:c.1422+27T= MANE Select NP_002094.2:n.1422+27T=
NM_001161587.2:c.1230+27T= NP_001155059.1:n.1230+27T=
NR_027763.2:n.1437+27T=
Search 100 bp 5'
Search 100 bp 3'