Canonical Allele Identifier: CA406761701

Gene: GYS1

Linked Data

• MyVariant Identifiers: chr19:g.49477949A>C (hg19) ; chr19:g.48974692A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974692A>C , CM000681.2:g.48974692A>C	GRCh38
NC_000019.9:g.49477949A>C , CM000681.1:g.49477949A>C	GRCh37
NC_000019.8:g.54169761A>C	NCBI36
NG_012923.1:g.23662T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1350T>G MANE Select	ENSP00000317904.3:p.Asp450Glu
ENST00000263276.6:c.1158T>G	ENSP00000263276.6:p.Asp386Glu
ENST00000323798.7:c.1350T>G	ENSP00000317904.3:p.Asp450Glu
ENST00000472004.5:n.105T>G
ENST00000496048.1:n.257T>G
NM_001161587.1:c.1158T>G	NP_001155059.1:p.Asp386Glu
NM_002103.4:c.1350T>G	NP_002094.2:p.Asp450Glu
NR_027763.1:n.1409T>G
NM_002103.5:c.1350T>G MANE Select	NP_002094.2:p.Asp450Glu
NM_001161587.2:c.1158T>G	NP_001155059.1:p.Asp386Glu
NR_027763.2:n.1365T>G