Canonical Allele Identifier: CA391562871

Gene: RYR3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.33603200A>G , CM000677.2:g.33603200A>G	GRCh38
NC_000015.9:g.33895401A>G , CM000677.1:g.33895401A>G	GRCh37
NC_000015.8:g.31682693A>G	NCBI36
NG_047076.1:g.297418A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001036.6:c.2000A>G MANE Select	NP_001027.3:p.Asp667Gly
ENST00000634891.2:c.2000A>G MANE Select	ENSP00000489262.1:p.Asp667Gly
NM_001036.4:c.2000A>G	NP_001027.3:p.Asp667Gly
NM_001036.5:c.2000A>G	NP_001027.3:p.Asp667Gly
NM_001243996.2:c.2000A>G	NP_001230925.1:p.Asp667Gly
NM_001243996.3:c.2000A>G	NP_001230925.1:p.Asp667Gly
NM_001243996.4:c.2000A>G	NP_001230925.1:p.Asp667Gly
ENST00000389232.9:c.2000A>G	ENSP00000373884.5:p.Asp667Gly
ENST00000415757.7:c.2000A>G	ENSP00000399610.3:p.Asp667Gly
ENST00000622037.1:c.2000A>G	ENSP00000483166.1:p.Asp667Gly
ENST00000634418.1:c.2000A>G	ENSP00000489529.1:p.Asp667Gly
ENST00000634891.1:c.2000A>G	ENSP00000489262.1:p.Asp667Gly
XM_011521880.1:c.2000A>G	XP_011520182.1:p.Asp667Gly
XM_011521880.2:c.2000A>G	XP_011520182.1:p.Asp667Gly
XM_017022468.1:c.2000A>G	XP_016877957.1:p.Asp667Gly
XM_017022469.1:c.2000A>G	XP_016877958.1:p.Asp667Gly
XM_017022470.2:c.1997A>G	XP_016877959.1:p.Asp666Gly
XM_017022471.1:c.2000A>G	XP_016877960.1:p.Asp667Gly
XM_017022472.1:c.2000A>G	XP_016877961.1:p.Asp667Gly
XM_017022473.1:c.2000A>G	XP_016877962.1:p.Asp667Gly
XM_017022474.1:c.1979A>G	XP_016877963.1:p.Asp660Gly
XM_017022475.1:c.2000A>G	XP_016877964.1:p.Asp667Gly
XM_017022476.1:c.1892A>G	XP_016877965.1:p.Asp631Gly
XM_017022477.1:c.2000A>G	XP_016877966.1:p.Asp667Gly
XM_024450015.1:c.2000A>G	XP_024305783.1:p.Asp667Gly
XM_024450016.1:c.2000A>G	XP_024305784.1:p.Asp667Gly
XR_001751369.1:n.2272A>G
XR_001751370.1:n.2272A>G
XR_001751371.2:n.2272A>G