Canonical Allele Identifier: CA406761762
Gene: GYS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48974720G>T , CM000681.2:g.48974720G>T GRCh38
NC_000019.9:g.49477977G>T , CM000681.1:g.49477977G>T GRCh37
NC_000019.8:g.54169789G>T NCBI36
NG_012923.1:g.23634C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.1322C>A MANE Select ENSP00000317904.3:p.Pro441His
ENST00000263276.6:c.1130C>A ENSP00000263276.6:p.Pro377His
ENST00000323798.7:c.1322C>A ENSP00000317904.3:p.Pro441His
ENST00000472004.5:n.77C>A
ENST00000496048.1:n.229C>A
NM_001161587.1:c.1130C>A NP_001155059.1:p.Pro377His
NM_002103.4:c.1322C>A NP_002094.2:p.Pro441His
NR_027763.1:n.1381C>A
NM_002103.5:c.1322C>A MANE Select NP_002094.2:p.Pro441His
NM_001161587.2:c.1130C>A NP_001155059.1:p.Pro377His
NR_027763.2:n.1337C>A