Canonical Allele Identifier: CA508081626

Gene: GYS1

Linked Data

• MyVariant Identifiers: chr19:g.49477988C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974731C>A , CM000681.2:g.48974731C>A	GRCh38
NC_000019.9:g.49477988C>A , CM000681.1:g.49477988C>A	GRCh37
NC_000019.8:g.54169800C>A	NCBI36
NG_012923.1:g.23623G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1311G>T MANE Select	ENSP00000317904.3:p.Arg437=
ENST00000263276.6:c.1119G>T	ENSP00000263276.6:p.Arg373=
ENST00000323798.7:c.1311G>T	ENSP00000317904.3:p.Arg437=
ENST00000472004.5:n.66G>T
ENST00000496048.1:n.218G>T
NM_001161587.1:c.1119G>T	NP_001155059.1:p.Arg373=
NM_002103.4:c.1311G>T	NP_002094.2:p.Arg437=
NR_027763.1:n.1370G>T
NM_002103.5:c.1311G>T MANE Select	NP_002094.2:p.Arg437=
NM_001161587.2:c.1119G>T	NP_001155059.1:p.Arg373=
NR_027763.2:n.1326G>T