Canonical Allele Identifier: CA406761781
Gene: GYS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48974730G>T , CM000681.2:g.48974730G>T GRCh38
NC_000019.9:g.49477987G>T , CM000681.1:g.49477987G>T GRCh37
NC_000019.8:g.54169799G>T NCBI36
NG_012923.1:g.23624C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.1312C>A MANE Select ENSP00000317904.3:p.Gln438Lys
ENST00000263276.6:c.1120C>A ENSP00000263276.6:p.Gln374Lys
ENST00000323798.7:c.1312C>A ENSP00000317904.3:p.Gln438Lys
ENST00000472004.5:n.67C>A
ENST00000496048.1:n.219C>A
NM_001161587.1:c.1120C>A NP_001155059.1:p.Gln374Lys
NM_002103.4:c.1312C>A NP_002094.2:p.Gln438Lys
NR_027763.1:n.1371C>A
NM_002103.5:c.1312C>A MANE Select NP_002094.2:p.Gln438Lys
NM_001161587.2:c.1120C>A NP_001155059.1:p.Gln374Lys
NR_027763.2:n.1327C>A