Canonical Allele Identifier: CA406761753
Gene: GYS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48974714A>T , CM000681.2:g.48974714A>T GRCh38
NC_000019.9:g.49477971A>T , CM000681.1:g.49477971A>T GRCh37
NC_000019.8:g.54169783A>T NCBI36
NG_012923.1:g.23640T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.1328T>A MANE Select ENSP00000317904.3:p.Val443Glu
ENST00000263276.6:c.1136T>A ENSP00000263276.6:p.Val379Glu
ENST00000323798.7:c.1328T>A ENSP00000317904.3:p.Val443Glu
ENST00000472004.5:n.83T>A
ENST00000496048.1:n.235T>A
NM_001161587.1:c.1136T>A NP_001155059.1:p.Val379Glu
NM_002103.4:c.1328T>A NP_002094.2:p.Val443Glu
NR_027763.1:n.1387T>A
NM_002103.5:c.1328T>A MANE Select NP_002094.2:p.Val443Glu
NM_001161587.2:c.1136T>A NP_001155059.1:p.Val379Glu
NR_027763.2:n.1343T>A