Canonical Allele Identifier: CA406761777
Gene: GYS1 HGNC NCBI

Linked Data

gnomAD v4: 19-48974728-C-G
MyVariant Identifiers: chr19:g.49477985C>G (hg19) chr19:g.48974728C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48974728C>G , CM000681.2:g.48974728C>G GRCh38
NC_000019.9:g.49477985C>G , CM000681.1:g.49477985C>G GRCh37
NC_000019.8:g.54169797C>G NCBI36
NG_012923.1:g.23626G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.1314G>C MANE Select ENSP00000317904.3:p.Gln438His
ENST00000263276.6:c.1122G>C ENSP00000263276.6:p.Gln374His
ENST00000323798.7:c.1314G>C ENSP00000317904.3:p.Gln438His
ENST00000472004.5:n.69G>C
ENST00000496048.1:n.221G>C
NM_001161587.1:c.1122G>C NP_001155059.1:p.Gln374His
NM_002103.4:c.1314G>C NP_002094.2:p.Gln438His
NR_027763.1:n.1373G>C
NM_002103.5:c.1314G>C MANE Select NP_002094.2:p.Gln438His
NM_001161587.2:c.1122G>C NP_001155059.1:p.Gln374His
NR_027763.2:n.1329G>C
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