Canonical Allele Identifier: CA11120141
Community Standard Title: NM_001135022.2(ELMOD3):c.815+108C>T
Gene: ELMOD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85389935C>T , CM000664.2:g.85389935C>T GRCh38
NC_000002.11:g.85617058C>T , CM000664.1:g.85617058C>T GRCh37
NC_000002.10:g.85470569C>T NCBI36
NG_051291.1:g.40542C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001135022.2:c.815+108C>T MANE Select NP_001128494.1:n.815+108C>T
ENST00000409013.8:c.815+108C>T MANE Select ENSP00000387139.3:n.815+108C>T
NM_001135021.1:c.815+108C>T NP_001128493.1:n.815+108C>T
NM_001135021.2:c.815+108C>T NP_001128493.1:n.815+108C>T
NM_001135022.1:c.815+108C>T NP_001128494.1:n.815+108C>T
NM_001135023.1:c.815+108C>T NP_001128495.1:n.815+108C>T
NM_001135023.2:c.815+108C>T NP_001128495.1:n.815+108C>T
NM_001329791.1:c.815+108C>T NP_001316720.1:n.815+108C>T
NM_001329791.2:c.815+108C>T NP_001316720.1:n.815+108C>T
NM_001329792.1:c.815+108C>T NP_001316721.1:n.815+108C>T
NM_001329792.2:c.815+108C>T NP_001316721.1:n.815+108C>T
NM_001329793.1:c.815+108C>T NP_001316722.1:n.815+108C>T
NM_001329793.2:c.815+108C>T NP_001316722.1:n.815+108C>T
NM_032213.4:c.815+108C>T NP_115589.2:n.815+108C>T
NR_138131.1:n.1459+108C>T
NR_138131.2:n.1410+108C>T
NR_138132.1:n.1471+108C>T
NR_138132.2:n.1422+108C>T
NR_138133.1:n.1162+108C>T
NR_138133.2:n.1113+108C>T
ENST00000315658.11:c.815+108C>T ENSP00000318264.7:n.815+108C>T
ENST00000393852.8:c.815+108C>T ENSP00000377434.4:n.815+108C>T
ENST00000409013.7:c.815+108C>T ENSP00000387139.3:n.815+108C>T
ENST00000409344.7:c.815+108C>T ENSP00000386248.3:n.815+108C>T
ENST00000409890.6:c.815+108C>T ENSP00000386304.2:n.815+108C>T
ENST00000410106.5:c.*487+108C>T ENSP00000387134.1:n.*487+108C>T
ENST00000414593.5:c.*206+108C>T ENSP00000394774.1:n.*206+108C>T
ENST00000423095.7:c.*200+108C>T ENSP00000408745.3:n.*200+108C>T
ENST00000444108.7:c.*178+108C>T ENSP00000401984.2:n.*178+108C>T
ENST00000446464.7:c.*178+108C>T ENSP00000407599.3:n.*178+108C>T
ENST00000486908.1:n.280+108C>T
ENST00000490508.5:n.1027+108C>T
ENST00000496957.1:n.243+108C>T
XM_005264596.2:c.815+108C>T XP_005264653.1:n.815+108C>T
XM_005264597.2:c.815+108C>T XP_005264654.1:n.815+108C>T
XM_005264598.2:c.815+108C>T XP_005264655.1:n.815+108C>T
XM_024453169.1:c.815+108C>T XP_024308937.1:n.815+108C>T
XM_024453170.1:c.815+108C>T XP_024308938.1:n.815+108C>T
XM_024453171.1:c.815+108C>T XP_024308939.1:n.815+108C>T
XM_024453172.1:c.815+108C>T XP_024308940.1:n.815+108C>T
XR_001738978.1:n.1424+108C>T
XR_001738979.1:n.1329+108C>T
XR_426997.1:n.1094+108C>T
XR_940315.1:n.85+190G>A