Canonical Allele Identifier: CA7457771

Gene: RYR3

Linked Data

• ClinVar Variation Id: 461898
• ClinVar RCV Id: RCV000553450
• dbSNP Id: rs2304386
• ExAC: 15:33822786 C / G
• gnomAD v2: 15-33822786-C-G
• gnomAD v3: 15-33530585-C-G
• gnomAD v4: 15-33530585-C-G
• MyVariant Identifiers: chr15:g.33822786C>G (hg19) ; chr15:g.33530585C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.33530585C>G , CM000677.2:g.33530585C>G	GRCh38
NC_000015.9:g.33822786C>G , CM000677.1:g.33822786C>G	GRCh37
NC_000015.8:g.31610078C>G	NCBI36
NG_047076.1:g.224803C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634891.2:c.280-7C>G MANE Select	ENSP00000489262.1:n.280-7C>G
ENST00000389232.9:c.280-7C>G	ENSP00000373884.5:n.280-7C>G
ENST00000415757.7:c.280-7C>G	ENSP00000399610.3:n.280-7C>G
ENST00000622037.1:c.280-7C>G	ENSP00000483166.1:n.280-7C>G
ENST00000634418.1:c.280-7C>G	ENSP00000489529.1:n.280-7C>G
ENST00000634891.1:c.280-7C>G	ENSP00000489262.1:n.280-7C>G
NM_001036.4:c.280-7C>G	NP_001027.3:n.280-7C>G
NM_001243996.2:c.280-7C>G	NP_001230925.1:n.280-7C>G
XM_011521880.1:c.280-7C>G	XP_011520182.1:n.280-7C>G
XM_011521880.2:c.280-7C>G	XP_011520182.1:n.280-7C>G
XM_017022468.1:c.280-7C>G	XP_016877957.1:n.280-7C>G
XM_017022469.1:c.280-7C>G	XP_016877958.1:n.280-7C>G
XM_017022470.2:c.277-7C>G	XP_016877959.1:n.277-7C>G
XM_017022471.1:c.280-7C>G	XP_016877960.1:n.280-7C>G
XM_017022472.1:c.280-7C>G	XP_016877961.1:n.280-7C>G
XM_017022473.1:c.280-7C>G	XP_016877962.1:n.280-7C>G
XM_017022474.1:c.259-7C>G	XP_016877963.1:n.259-7C>G
XM_017022475.1:c.280-7C>G	XP_016877964.1:n.280-7C>G
XM_017022476.1:c.172-7C>G	XP_016877965.1:n.172-7C>G
XM_017022477.1:c.280-7C>G	XP_016877966.1:n.280-7C>G
XM_024450015.1:c.280-7C>G	XP_024305783.1:n.280-7C>G
XM_024450016.1:c.280-7C>G	XP_024305784.1:n.280-7C>G
XR_001751369.1:n.552-7C>G
XR_001751370.1:n.552-7C>G
XR_001751371.2:n.552-7C>G
NM_001036.5:c.280-7C>G	NP_001027.3:n.280-7C>G
NM_001243996.3:c.280-7C>G	NP_001230925.1:n.280-7C>G
NM_001036.6:c.280-7C>G MANE Select	NP_001027.3:n.280-7C>G
NM_001243996.4:c.280-7C>G	NP_001230925.1:n.280-7C>G