Canonical Allele Identifier: CA1266748004
Gene: ELMOD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85389806T= , CM000664.2:g.85389806T= GRCh38
NC_000002.11:g.85616929T= , CM000664.1:g.85616929T= GRCh37
NC_000002.10:g.85470440T= NCBI36
NG_051291.1:g.40413T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000409013.8:c.794T= MANE Select ENSP00000387139.3:p.Leu265=
ENST00000315658.11:c.794T= ENSP00000318264.7:p.Leu265=
ENST00000393852.8:c.794T= ENSP00000377434.4:p.Leu265=
ENST00000409013.7:c.794T= ENSP00000387139.3:p.Leu265=
ENST00000409344.7:c.794T= ENSP00000386248.3:p.Leu265=
ENST00000409890.6:c.794T= ENSP00000386304.2:p.Leu265=
ENST00000410106.5:c.*466T= ENSP00000387134.1:n.*466T=
ENST00000414593.5:c.*185T= ENSP00000394774.1:n.*185T=
ENST00000423095.7:c.*179T= ENSP00000408745.3:n.*179T=
ENST00000444108.7:c.*157T= ENSP00000401984.2:n.*157T=
ENST00000446464.7:c.*157T= ENSP00000407599.3:n.*157T=
ENST00000486908.1:n.259T=
ENST00000490508.5:n.1006T=
ENST00000496957.1:n.222T=
NM_001135021.1:c.794T= NP_001128493.1:p.Leu265=
NM_001135022.1:c.794T= NP_001128494.1:p.Leu265=
NM_001135023.1:c.794T= NP_001128495.1:p.Leu265=
NM_032213.4:c.794T= NP_115589.2:p.Leu265=
XM_005264596.2:c.794T= XP_005264653.1:p.Leu265=
XM_005264597.2:c.794T= XP_005264654.1:p.Leu265=
XM_005264598.2:c.794T= XP_005264655.1:p.Leu265=
XR_426997.1:n.1073T=
XR_940315.1:n.86-220A=
NM_001329791.1:c.794T= NP_001316720.1:p.Leu265=
NM_001329792.1:c.794T= NP_001316721.1:p.Leu265=
NM_001329793.1:c.794T= NP_001316722.1:p.Leu265=
NR_138131.1:n.1438T=
NR_138132.1:n.1450T=
NR_138133.1:n.1141T=
XM_024453169.1:c.794T= XP_024308937.1:p.Leu265=
XM_024453170.1:c.794T= XP_024308938.1:p.Leu265=
XM_024453171.1:c.794T= XP_024308939.1:p.Leu265=
XM_024453172.1:c.794T= XP_024308940.1:p.Leu265=
XR_001738978.1:n.1403T=
XR_001738979.1:n.1308T=
NM_001135022.2:c.794T= MANE Select NP_001128494.1:p.Leu265=
NM_001135021.2:c.794T= NP_001128493.1:p.Leu265=
NM_001135023.2:c.794T= NP_001128495.1:p.Leu265=
NM_001329791.2:c.794T= NP_001316720.1:p.Leu265=
NM_001329792.2:c.794T= NP_001316721.1:p.Leu265=
NM_001329793.2:c.794T= NP_001316722.1:p.Leu265=
NR_138131.2:n.1389T=
NR_138132.2:n.1401T=
NR_138133.2:n.1092T=