Canonical Allele Identifier: CA9562979

Gene: GYS1

Linked Data

• ClinVar Variation Id: 498167
• ClinVar RCV Id: RCV000592153 ; RCV001214230
• dbSNP Id: rs142951866
• ExAC: 19:49477975 G / C
• gnomAD v2: 19-49477975-G-C
• gnomAD v3: 19-48974718-G-C
• gnomAD v4: 19-48974718-G-C
• MyVariant Identifiers: chr19:g.49477975G>C (hg19) ; chr19:g.48974718G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974718G>C , CM000681.2:g.48974718G>C	GRCh38
NC_000019.9:g.49477975G>C , CM000681.1:g.49477975G>C	GRCh37
NC_000019.8:g.54169787G>C	NCBI36
NG_012923.1:g.23636C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1324C>G MANE Select	ENSP00000317904.3:p.Pro442Ala
ENST00000263276.6:c.1132C>G	ENSP00000263276.6:p.Pro378Ala
ENST00000323798.7:c.1324C>G	ENSP00000317904.3:p.Pro442Ala
ENST00000472004.5:n.79C>G
ENST00000496048.1:n.231C>G
NM_001161587.1:c.1132C>G	NP_001155059.1:p.Pro378Ala
NM_002103.4:c.1324C>G	NP_002094.2:p.Pro442Ala
NR_027763.1:n.1383C>G
NM_002103.5:c.1324C>G MANE Select	NP_002094.2:p.Pro442Ala
NM_001161587.2:c.1132C>G	NP_001155059.1:p.Pro378Ala
NR_027763.2:n.1339C>G