Canonical Allele Identifier: CA9562985
Gene: GYS1 HGNC NCBI

Linked Data

dbSNP Id: rs777768883
ExAC: 19:49477989 C / T
gnomAD v2: 19-49477989-C-T
gnomAD v4: 19-48974732-C-T
COSMIC: COSM3422987
MyVariant Identifiers: chr19:g.49477989C>T (hg19) chr19:g.48974732C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48974732C>T , CM000681.2:g.48974732C>T GRCh38
NC_000019.9:g.49477989C>T , CM000681.1:g.49477989C>T GRCh37
NC_000019.8:g.54169801C>T NCBI36
NG_012923.1:g.23622G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.1310G>A MANE Select ENSP00000317904.3:p.Arg437Gln
ENST00000263276.6:c.1118G>A ENSP00000263276.6:p.Arg373Gln
ENST00000323798.7:c.1310G>A ENSP00000317904.3:p.Arg437Gln
ENST00000472004.5:n.65G>A
ENST00000496048.1:n.217G>A
NM_001161587.1:c.1118G>A NP_001155059.1:p.Arg373Gln
NM_002103.4:c.1310G>A NP_002094.2:p.Arg437Gln
NR_027763.1:n.1369G>A
NM_002103.5:c.1310G>A MANE Select NP_002094.2:p.Arg437Gln
NM_001161587.2:c.1118G>A NP_001155059.1:p.Arg373Gln
NR_027763.2:n.1325G>A
Search 100 bp 5'
Search 100 bp 3'