Canonical Allele Identifier: CA406761687

Gene: GYS1

Linked Data

• gnomAD v4: 19-48974687-G-A
• COSMIC: COSM3536718
• MyVariant Identifiers: chr19:g.49477944G>A (hg19) ; chr19:g.48974687G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974687G>A , CM000681.2:g.48974687G>A	GRCh38
NC_000019.9:g.49477944G>A , CM000681.1:g.49477944G>A	GRCh37
NC_000019.8:g.54169756G>A	NCBI36
NG_012923.1:g.23667C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1355C>T MANE Select	ENSP00000317904.3:p.Ser452Phe
ENST00000263276.6:c.1163C>T	ENSP00000263276.6:p.Ser388Phe
ENST00000323798.7:c.1355C>T	ENSP00000317904.3:p.Ser452Phe
ENST00000472004.5:n.110C>T
ENST00000496048.1:n.262C>T
NM_001161587.1:c.1163C>T	NP_001155059.1:p.Ser388Phe
NM_002103.4:c.1355C>T	NP_002094.2:p.Ser452Phe
NR_027763.1:n.1414C>T
NM_002103.5:c.1355C>T MANE Select	NP_002094.2:p.Ser452Phe
NM_001161587.2:c.1163C>T	NP_001155059.1:p.Ser388Phe
NR_027763.2:n.1370C>T