Canonical Allele Identifier: CA508081596

Gene: GYS1

Linked Data

• MyVariant Identifiers: chr19:g.49477940T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974683T>G , CM000681.2:g.48974683T>G	GRCh38
NC_000019.9:g.49477940T>G , CM000681.1:g.49477940T>G	GRCh37
NC_000019.8:g.54169752T>G	NCBI36
NG_012923.1:g.23671A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1359A>C MANE Select	ENSP00000317904.3:p.Ser453=
ENST00000263276.6:c.1167A>C	ENSP00000263276.6:p.Ser389=
ENST00000323798.7:c.1359A>C	ENSP00000317904.3:p.Ser453=
ENST00000472004.5:n.114A>C
ENST00000496048.1:n.266A>C
NM_001161587.1:c.1167A>C	NP_001155059.1:p.Ser389=
NM_002103.4:c.1359A>C	NP_002094.2:p.Ser453=
NR_027763.1:n.1418A>C
NM_002103.5:c.1359A>C MANE Select	NP_002094.2:p.Ser453=
NM_001161587.2:c.1167A>C	NP_001155059.1:p.Ser389=
NR_027763.2:n.1374A>C