Canonical Allele Identifier: CA712214290

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.33866065A>T , CM000677.2:g.33866065A>T GRCh38
NC_000015.9:g.34158266A>T , CM000677.1:g.34158266A>T GRCh37
NC_000015.8:g.31945558A>T NCBI36
NG_047076.1:g.560283A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000634891.2:c.*839A>T (RYR3) MANE Select ENSP00000489262.1:n.*839A>T
ENST00000636568.1:c.2245A>T (RYR3)
ENST00000636845.1:c.2961A>T (RYR3)
ENST00000637948.1:c.3001A>T (RYR3)
ENST00000675287.1:n.2510+497T>A (AVEN)
ENST00000389232.9:c.*839A>T (RYR3) ENSP00000373884.5:n.*839A>T
ENST00000415757.7:c.*839A>T (RYR3) ENSP00000399610.3:n.*839A>T
ENST00000622037.1:c.*839A>T (RYR3) ENSP00000483166.1:n.*839A>T
ENST00000634730.1:c.2687A>T (RYR3) ENSP00000489346.1:n.2687A>T
ENST00000634891.1:c.*839A>T (RYR3) ENSP00000489262.1:n.*839A>T
NM_001036.4:c.*839A>T (RYR3) NP_001027.3:n.*839A>T
NM_001243996.2:c.*839A>T (RYR3) NP_001230925.1:n.*839A>T
XM_011521880.1:c.*839A>T (RYR3) XP_011520182.1:n.*839A>T
XM_011521880.2:c.*839A>T (RYR3) XP_011520182.1:n.*839A>T
XM_017022468.1:c.*839A>T (RYR3) XP_016877957.1:n.*839A>T
XM_017022469.1:c.*839A>T (RYR3) XP_016877958.1:n.*839A>T
XM_017022470.2:c.*839A>T (RYR3) XP_016877959.1:n.*839A>T
XM_017022471.1:c.*839A>T (RYR3) XP_016877960.1:n.*839A>T
XM_017022472.1:c.*839A>T (RYR3) XP_016877961.1:n.*839A>T
XM_017022473.1:c.*839A>T (RYR3) XP_016877962.1:n.*839A>T
XM_017022474.1:c.*839A>T (RYR3) XP_016877963.1:n.*839A>T
XM_017022475.1:c.*839A>T (RYR3) XP_016877964.1:n.*839A>T
XM_017022476.1:c.*839A>T (RYR3) XP_016877965.1:n.*839A>T
XM_024450015.1:c.*839A>T (RYR3) XP_024305783.1:n.*839A>T
XM_024450016.1:c.*839A>T (RYR3) XP_024305784.1:n.*839A>T
XR_001751364.2:n.1294+497T>A (AVEN)
XR_001751369.1:n.15629A>T (RYR3)
XR_002957666.1:n.1294+497T>A (AVEN)
XR_002957667.1:n.1294+497T>A (AVEN)
NM_001036.5:c.*839A>T (RYR3) NP_001027.3:n.*839A>T
NM_001243996.3:c.*839A>T (RYR3) NP_001230925.1:n.*839A>T
NM_001036.6:c.*839A>T (RYR3) MANE Select NP_001027.3:n.*839A>T
NM_001243996.4:c.*839A>T (RYR3) NP_001230925.1:n.*839A>T