Canonical Allele Identifier: CA9562980
Gene: GYS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 936512
ClinVar RCV Id: RCV001205324
dbSNP Id: rs142951866

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.1324C>A MANE Select ENSP00000317904.3:p.Pro442Thr
ENST00000263276.6:c.1132C>A ENSP00000263276.6:p.Pro378Thr
ENST00000323798.7:c.1324C>A ENSP00000317904.3:p.Pro442Thr
ENST00000472004.5:n.79C>A
ENST00000496048.1:n.231C>A
NM_001161587.1:c.1132C>A NP_001155059.1:p.Pro378Thr
NM_002103.4:c.1324C>A NP_002094.2:p.Pro442Thr
NR_027763.1:n.1383C>A
NM_002103.5:c.1324C>A MANE Select NP_002094.2:p.Pro442Thr
NM_001161587.2:c.1132C>A NP_001155059.1:p.Pro378Thr
NR_027763.2:n.1339C>A