Canonical Allele Identifier: CA406761776

Gene: GYS1

Linked Data

• MyVariant Identifiers: chr19:g.49477985C>A (hg19) ; chr19:g.48974728C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974728C>A , CM000681.2:g.48974728C>A	GRCh38
NC_000019.9:g.49477985C>A , CM000681.1:g.49477985C>A	GRCh37
NC_000019.8:g.54169797C>A	NCBI36
NG_012923.1:g.23626G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1314G>T MANE Select	ENSP00000317904.3:p.Gln438His
ENST00000263276.6:c.1122G>T	ENSP00000263276.6:p.Gln374His
ENST00000323798.7:c.1314G>T	ENSP00000317904.3:p.Gln438His
ENST00000472004.5:n.69G>T
ENST00000496048.1:n.221G>T
NM_001161587.1:c.1122G>T	NP_001155059.1:p.Gln374His
NM_002103.4:c.1314G>T	NP_002094.2:p.Gln438His
NR_027763.1:n.1373G>T
NM_002103.5:c.1314G>T MANE Select	NP_002094.2:p.Gln438His
NM_001161587.2:c.1122G>T	NP_001155059.1:p.Gln374His
NR_027763.2:n.1329G>T