Canonical Allele Identifier: CA406761692
Gene: GYS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48974688A>T , CM000681.2:g.48974688A>T GRCh38
NC_000019.9:g.49477945A>T , CM000681.1:g.49477945A>T GRCh37
NC_000019.8:g.54169757A>T NCBI36
NG_012923.1:g.23666T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.1354T>A MANE Select ENSP00000317904.3:p.Ser452Thr
ENST00000263276.6:c.1162T>A ENSP00000263276.6:p.Ser388Thr
ENST00000323798.7:c.1354T>A ENSP00000317904.3:p.Ser452Thr
ENST00000472004.5:n.109T>A
ENST00000496048.1:n.261T>A
NM_001161587.1:c.1162T>A NP_001155059.1:p.Ser388Thr
NM_002103.4:c.1354T>A NP_002094.2:p.Ser452Thr
NR_027763.1:n.1413T>A
NM_002103.5:c.1354T>A MANE Select NP_002094.2:p.Ser452Thr
NM_001161587.2:c.1162T>A NP_001155059.1:p.Ser388Thr
NR_027763.2:n.1369T>A