Canonical Allele Identifier: CA7459833

Gene: RYR3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.33731519A>G , CM000677.2:g.33731519A>G	GRCh38
NC_000015.9:g.34023720A>G , CM000677.1:g.34023720A>G	GRCh37
NC_000015.8:g.31811012A>G	NCBI36
NG_047076.1:g.425737A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001036.6:c.7249A>G MANE Select	NP_001027.3:p.Ile2417Val
ENST00000634891.2:c.7249A>G MANE Select	ENSP00000489262.1:p.Ile2417Val
NM_001036.4:c.7249A>G	NP_001027.3:p.Ile2417Val
NM_001036.5:c.7249A>G	NP_001027.3:p.Ile2417Val
NM_001243996.2:c.7249A>G	NP_001230925.1:p.Ile2417Val
NM_001243996.3:c.7249A>G	NP_001230925.1:p.Ile2417Val
NM_001243996.4:c.7249A>G	NP_001230925.1:p.Ile2417Val
ENST00000389232.9:c.7246A>G	ENSP00000373884.5:p.Ile2416Val
ENST00000415757.7:c.7249A>G	ENSP00000399610.3:p.Ile2417Val
ENST00000622037.1:c.7249A>G	ENSP00000483166.1:p.Ile2417Val
ENST00000634418.1:c.7246A>G	ENSP00000489529.1:p.Ile2416Val
ENST00000634891.1:c.7249A>G	ENSP00000489262.1:p.Ile2417Val
ENST00000635790.1:c.362A>G
XM_011521880.1:c.7246A>G	XP_011520182.1:p.Ile2416Val
XM_011521880.2:c.7246A>G	XP_011520182.1:p.Ile2416Val
XM_017022468.1:c.7249A>G	XP_016877957.1:p.Ile2417Val
XM_017022469.1:c.7246A>G	XP_016877958.1:p.Ile2416Val
XM_017022470.2:c.7246A>G	XP_016877959.1:p.Ile2416Val
XM_017022471.1:c.7246A>G	XP_016877960.1:p.Ile2416Val
XM_017022472.1:c.7246A>G	XP_016877961.1:p.Ile2416Val
XM_017022473.1:c.7249A>G	XP_016877962.1:p.Ile2417Val
XM_017022474.1:c.7228A>G	XP_016877963.1:p.Ile2410Val
XM_017022475.1:c.7249A>G	XP_016877964.1:p.Ile2417Val
XM_017022476.1:c.7141A>G	XP_016877965.1:p.Ile2381Val
XM_017022477.1:c.7249A>G	XP_016877966.1:p.Ile2417Val
XM_024450015.1:c.7243A>G	XP_024305783.1:p.Ile2415Val
XM_024450016.1:c.7243A>G	XP_024305784.1:p.Ile2415Val
XR_001751369.1:n.7521A>G
XR_001751370.1:n.7521A>G
XR_001751371.2:n.7521A>G