Canonical Allele Identifier: CA391560149

Gene: RYR3

Linked Data

• MyVariant Identifiers: chr15:g.33822862G>C (hg19) ; chr15:g.33530661G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.33530661G>C , CM000677.2:g.33530661G>C	GRCh38
NC_000015.9:g.33822862G>C , CM000677.1:g.33822862G>C	GRCh37
NC_000015.8:g.31610154G>C	NCBI36
NG_047076.1:g.224879G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634891.2:c.349G>C MANE Select	ENSP00000489262.1:p.Gly117Arg
ENST00000389232.9:c.349G>C	ENSP00000373884.5:p.Gly117Arg
ENST00000415757.7:c.349G>C	ENSP00000399610.3:p.Gly117Arg
ENST00000622037.1:c.349G>C	ENSP00000483166.1:p.Gly117Arg
ENST00000634418.1:c.349G>C	ENSP00000489529.1:p.Gly117Arg
ENST00000634891.1:c.349G>C	ENSP00000489262.1:p.Gly117Arg
NM_001036.4:c.349G>C	NP_001027.3:p.Gly117Arg
NM_001243996.2:c.349G>C	NP_001230925.1:p.Gly117Arg
XM_011521880.1:c.349G>C	XP_011520182.1:p.Gly117Arg
XM_011521880.2:c.349G>C	XP_011520182.1:p.Gly117Arg
XM_017022468.1:c.349G>C	XP_016877957.1:p.Gly117Arg
XM_017022469.1:c.349G>C	XP_016877958.1:p.Gly117Arg
XM_017022470.2:c.346G>C	XP_016877959.1:p.Gly116Arg
XM_017022471.1:c.349G>C	XP_016877960.1:p.Gly117Arg
XM_017022472.1:c.349G>C	XP_016877961.1:p.Gly117Arg
XM_017022473.1:c.349G>C	XP_016877962.1:p.Gly117Arg
XM_017022474.1:c.328G>C	XP_016877963.1:p.Gly110Arg
XM_017022475.1:c.349G>C	XP_016877964.1:p.Gly117Arg
XM_017022476.1:c.241G>C	XP_016877965.1:p.Gly81Arg
XM_017022477.1:c.349G>C	XP_016877966.1:p.Gly117Arg
XM_024450015.1:c.349G>C	XP_024305783.1:p.Gly117Arg
XM_024450016.1:c.349G>C	XP_024305784.1:p.Gly117Arg
XR_001751369.1:n.621G>C
XR_001751370.1:n.621G>C
XR_001751371.2:n.621G>C
NM_001036.5:c.349G>C	NP_001027.3:p.Gly117Arg
NM_001243996.3:c.349G>C	NP_001230925.1:p.Gly117Arg
NM_001036.6:c.349G>C MANE Select	NP_001027.3:p.Gly117Arg
NM_001243996.4:c.349G>C	NP_001230925.1:p.Gly117Arg