Canonical Allele Identifier: CA406761765
Gene: GYS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48974722G>C , CM000681.2:g.48974722G>C GRCh38
NC_000019.9:g.49477979G>C , CM000681.1:g.49477979G>C GRCh37
NC_000019.8:g.54169791G>C NCBI36
NG_012923.1:g.23632C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.1320C>G MANE Select ENSP00000317904.3:p.Phe440Leu
ENST00000263276.6:c.1128C>G ENSP00000263276.6:p.Phe376Leu
ENST00000323798.7:c.1320C>G ENSP00000317904.3:p.Phe440Leu
ENST00000472004.5:n.75C>G
ENST00000496048.1:n.227C>G
NM_001161587.1:c.1128C>G NP_001155059.1:p.Phe376Leu
NM_002103.4:c.1320C>G NP_002094.2:p.Phe440Leu
NR_027763.1:n.1379C>G
NM_002103.5:c.1320C>G MANE Select NP_002094.2:p.Phe440Leu
NM_001161587.2:c.1128C>G NP_001155059.1:p.Phe376Leu
NR_027763.2:n.1335C>G