Canonical Allele Identifier: CA9562961
Gene: GYS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1298780
ClinVar RCV Id: RCV001727110
dbSNP Id: rs778728429
ExAC: 19:49477889 G / C
gnomAD v2: 19-49477889-G-C
gnomAD v3: 19-48974632-G-C
gnomAD v4: 19-48974632-G-C
MyVariant Identifiers: chr19:g.49477889G>C (hg19) chr19:g.48974632G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48974632G>C , CM000681.2:g.48974632G>C GRCh38
NC_000019.9:g.49477889G>C , CM000681.1:g.49477889G>C GRCh37
NC_000019.8:g.54169701G>C NCBI36
NG_012923.1:g.23722C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.1410C>G MANE Select ENSP00000317904.3:p.Ala470=
ENST00000263276.6:c.1218C>G ENSP00000263276.6:p.Ala406=
ENST00000323798.7:c.1410C>G ENSP00000317904.3:p.Ala470=
ENST00000472004.5:n.165C>G
ENST00000496048.1:n.317C>G
NM_001161587.1:c.1218C>G NP_001155059.1:p.Ala406=
NM_002103.4:c.1410C>G NP_002094.2:p.Ala470=
NR_027763.1:n.1469C>G
NM_002103.5:c.1410C>G MANE Select NP_002094.2:p.Ala470=
NM_001161587.2:c.1218C>G NP_001155059.1:p.Ala406=
NR_027763.2:n.1425C>G
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