Canonical Allele Identifier: CA915951882
Gene: GYS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 649510
ClinVar RCV Id: RCV000804462 RCV002534782
dbSNP Id: rs1600135048
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48974726_48974727delinsTT , CM000681.2:g.48974726_48974727delinsTT GRCh38
NC_000019.9:g.49477983_49477984delinsTT , CM000681.1:g.49477983_49477984delinsTT GRCh37
NC_000019.8:g.54169795_54169796delinsTT NCBI36
NG_012923.1:g.23627_23628delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.1315_1316delinsAA MANE Select ENSP00000317904.3:p.Ser439Asn
ENST00000263276.6:c.1123_1124delinsAA ENSP00000263276.6:p.Ser375Asn
ENST00000323798.7:c.1315_1316delinsAA ENSP00000317904.3:p.Ser439Asn
ENST00000472004.5:n.70_71delinsAA
ENST00000496048.1:n.222_223delinsAA
NM_001161587.1:c.1123_1124delinsAA NP_001155059.1:p.Ser375Asn
NM_002103.4:c.1315_1316delinsAA NP_002094.2:p.Ser439Asn
NR_027763.1:n.1374_1375delinsAA
NM_002103.5:c.1315_1316delinsAA MANE Select NP_002094.2:p.Ser439Asn
NM_001161587.2:c.1123_1124delinsAA NP_001155059.1:p.Ser375Asn
NR_027763.2:n.1330_1331delinsAA
Search 100 bp 5'
Search 100 bp 3'