Canonical Allele Identifier: CA391566842
Gene: RYR3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.33660394G>C , CM000677.2:g.33660394G>C GRCh38
NC_000015.9:g.33952595G>C , CM000677.1:g.33952595G>C GRCh37
NC_000015.8:g.31739887G>C NCBI36
NG_047076.1:g.354612G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000634891.2:c.4593G>C MANE Select ENSP00000489262.1:p.Met1531Ile
ENST00000389232.9:c.4593G>C ENSP00000373884.5:p.Met1531Ile
ENST00000415757.7:c.4593G>C ENSP00000399610.3:p.Met1531Ile
ENST00000622037.1:c.4593G>C ENSP00000483166.1:p.Met1531Ile
ENST00000634418.1:c.4593G>C ENSP00000489529.1:p.Met1531Ile
ENST00000634891.1:c.4593G>C ENSP00000489262.1:p.Met1531Ile
NM_001036.4:c.4593G>C NP_001027.3:p.Met1531Ile
NM_001243996.2:c.4593G>C NP_001230925.1:p.Met1531Ile
XM_011521880.1:c.4593G>C XP_011520182.1:p.Met1531Ile
XM_011521880.2:c.4593G>C XP_011520182.1:p.Met1531Ile
XM_017022468.1:c.4593G>C XP_016877957.1:p.Met1531Ile
XM_017022469.1:c.4593G>C XP_016877958.1:p.Met1531Ile
XM_017022470.2:c.4590G>C XP_016877959.1:p.Met1530Ile
XM_017022471.1:c.4590G>C XP_016877960.1:p.Met1530Ile
XM_017022472.1:c.4593G>C XP_016877961.1:p.Met1531Ile
XM_017022473.1:c.4593G>C XP_016877962.1:p.Met1531Ile
XM_017022474.1:c.4572G>C XP_016877963.1:p.Met1524Ile
XM_017022475.1:c.4593G>C XP_016877964.1:p.Met1531Ile
XM_017022476.1:c.4485G>C XP_016877965.1:p.Met1495Ile
XM_017022477.1:c.4593G>C XP_016877966.1:p.Met1531Ile
XM_024450015.1:c.4590G>C XP_024305783.1:p.Met1530Ile
XM_024450016.1:c.4590G>C XP_024305784.1:p.Met1530Ile
XR_001751369.1:n.4865G>C
XR_001751370.1:n.4865G>C
XR_001751371.2:n.4865G>C
NM_001036.5:c.4593G>C NP_001027.3:p.Met1531Ile
NM_001243996.3:c.4593G>C NP_001230925.1:p.Met1531Ile
NM_001036.6:c.4593G>C MANE Select NP_001027.3:p.Met1531Ile
NM_001243996.4:c.4593G>C NP_001230925.1:p.Met1531Ile