Canonical Allele Identifier: CA406761690

Gene: GYS1

Linked Data

• dbSNP Id: rs2038617341
• MyVariant Identifiers: chr19:g.49477945A>C (hg19) ; chr19:g.48974688A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974688A>C , CM000681.2:g.48974688A>C	GRCh38
NC_000019.9:g.49477945A>C , CM000681.1:g.49477945A>C	GRCh37
NC_000019.8:g.54169757A>C	NCBI36
NG_012923.1:g.23666T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1354T>G MANE Select	ENSP00000317904.3:p.Ser452Ala
ENST00000263276.6:c.1162T>G	ENSP00000263276.6:p.Ser388Ala
ENST00000323798.7:c.1354T>G	ENSP00000317904.3:p.Ser452Ala
ENST00000472004.5:n.109T>G
ENST00000496048.1:n.261T>G
NM_001161587.1:c.1162T>G	NP_001155059.1:p.Ser388Ala
NM_002103.4:c.1354T>G	NP_002094.2:p.Ser452Ala
NR_027763.1:n.1413T>G
NM_002103.5:c.1354T>G MANE Select	NP_002094.2:p.Ser452Ala
NM_001161587.2:c.1162T>G	NP_001155059.1:p.Ser388Ala
NR_027763.2:n.1369T>G