Canonical Allele Identifier: CA391585857

Gene: RYR3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.33707039G>A , CM000677.2:g.33707039G>A	GRCh38
NC_000015.9:g.33999240G>A , CM000677.1:g.33999240G>A	GRCh37
NC_000015.8:g.31786532G>A	NCBI36
NG_047076.1:g.401257G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001036.6:c.6604G>A MANE Select	NP_001027.3:p.Ala2202Thr
ENST00000634891.2:c.6604G>A MANE Select	ENSP00000489262.1:p.Ala2202Thr
NM_001036.4:c.6604G>A	NP_001027.3:p.Ala2202Thr
NM_001036.5:c.6604G>A	NP_001027.3:p.Ala2202Thr
NM_001243996.2:c.6604G>A	NP_001230925.1:p.Ala2202Thr
NM_001243996.3:c.6604G>A	NP_001230925.1:p.Ala2202Thr
NM_001243996.4:c.6604G>A	NP_001230925.1:p.Ala2202Thr
ENST00000389232.9:c.6604G>A	ENSP00000373884.5:p.Ala2202Thr
ENST00000415757.7:c.6604G>A	ENSP00000399610.3:p.Ala2202Thr
ENST00000622037.1:c.6604G>A	ENSP00000483166.1:p.Ala2202Thr
ENST00000634418.1:c.6604G>A	ENSP00000489529.1:p.Ala2202Thr
ENST00000634891.1:c.6604G>A	ENSP00000489262.1:p.Ala2202Thr
XM_011521880.1:c.6604G>A	XP_011520182.1:p.Ala2202Thr
XM_011521880.2:c.6604G>A	XP_011520182.1:p.Ala2202Thr
XM_017022468.1:c.6604G>A	XP_016877957.1:p.Ala2202Thr
XM_017022469.1:c.6604G>A	XP_016877958.1:p.Ala2202Thr
XM_017022470.2:c.6601G>A	XP_016877959.1:p.Ala2201Thr
XM_017022471.1:c.6601G>A	XP_016877960.1:p.Ala2201Thr
XM_017022472.1:c.6604G>A	XP_016877961.1:p.Ala2202Thr
XM_017022473.1:c.6604G>A	XP_016877962.1:p.Ala2202Thr
XM_017022474.1:c.6583G>A	XP_016877963.1:p.Ala2195Thr
XM_017022475.1:c.6604G>A	XP_016877964.1:p.Ala2202Thr
XM_017022476.1:c.6496G>A	XP_016877965.1:p.Ala2166Thr
XM_017022477.1:c.6604G>A	XP_016877966.1:p.Ala2202Thr
XM_024450015.1:c.6601G>A	XP_024305783.1:p.Ala2201Thr
XM_024450016.1:c.6601G>A	XP_024305784.1:p.Ala2201Thr
XR_001751369.1:n.6876G>A
XR_001751370.1:n.6876G>A
XR_001751371.2:n.6876G>A