Canonical Allele Identifier: CA11229797
Gene: ELMOD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85368807C>T , CM000664.2:g.85368807C>T GRCh38
NC_000002.11:g.85595930C>T , CM000664.1:g.85595930C>T GRCh37
NC_000002.10:g.85449441C>T NCBI36
NG_051291.1:g.19414C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409013.8:c.268+53C>T MANE Select ENSP00000387139.3:n.268+53C>T
ENST00000315658.11:c.268+53C>T ENSP00000318264.7:n.268+53C>T
ENST00000393852.8:c.268+53C>T ENSP00000377434.4:n.268+53C>T
ENST00000409013.7:c.268+53C>T ENSP00000387139.3:n.268+53C>T
ENST00000409331.6:c.268+53C>T ENSP00000386257.2:n.268+53C>T
ENST00000409344.7:c.268+53C>T ENSP00000386248.3:n.268+53C>T
ENST00000409890.6:c.268+53C>T ENSP00000386304.2:n.268+53C>T
ENST00000410106.5:c.268+53C>T ENSP00000387134.1:n.268+53C>T
ENST00000414593.5:c.268+53C>T ENSP00000394774.1:n.268+53C>T
ENST00000418268.5:c.268+53C>T ENSP00000393443.1:n.268+53C>T
ENST00000423095.7:c.268+53C>T ENSP00000408745.3:n.268+53C>T
ENST00000429764.5:c.130-2279C>T ENSP00000408329.1:n.130-2279C>T
ENST00000440462.5:c.*63+53C>T ENSP00000398264.1:n.*63+53C>T
ENST00000444108.7:c.268+53C>T ENSP00000401984.2:n.268+53C>T
ENST00000446464.7:c.268+53C>T ENSP00000407599.3:n.268+53C>T
ENST00000462891.7:c.268+53C>T ENSP00000436715.2:n.268+53C>T
ENST00000488150.1:n.167+53C>T
ENST00000490508.5:n.480+53C>T
NM_001135021.1:c.268+53C>T NP_001128493.1:n.268+53C>T
NM_001135022.1:c.268+53C>T NP_001128494.1:n.268+53C>T
NM_001135023.1:c.268+53C>T NP_001128495.1:n.268+53C>T
NM_032213.4:c.268+53C>T NP_115589.2:n.268+53C>T
XM_005264596.2:c.268+53C>T XP_005264653.1:n.268+53C>T
XM_005264597.2:c.268+53C>T XP_005264654.1:n.268+53C>T
XM_005264598.2:c.268+53C>T XP_005264655.1:n.268+53C>T
XM_006712116.1:c.268+53C>T XP_006712179.1:n.268+53C>T
XR_426997.1:n.419+53C>T
NM_001329791.1:c.268+53C>T NP_001316720.1:n.268+53C>T
NM_001329792.1:c.268+53C>T NP_001316721.1:n.268+53C>T
NM_001329793.1:c.268+53C>T NP_001316722.1:n.268+53C>T
NR_138131.1:n.705+53C>T
NR_138132.1:n.1047+53C>T
NR_138133.1:n.610+53C>T
XM_024453169.1:c.268+53C>T XP_024308937.1:n.268+53C>T
XM_024453170.1:c.268+53C>T XP_024308938.1:n.268+53C>T
XM_024453171.1:c.268+53C>T XP_024308939.1:n.268+53C>T
XM_024453172.1:c.268+53C>T XP_024308940.1:n.268+53C>T
XR_001738978.1:n.749+53C>T
XR_001738979.1:n.654+53C>T
NM_001135022.2:c.268+53C>T MANE Select NP_001128494.1:n.268+53C>T
NM_001135021.2:c.268+53C>T NP_001128493.1:n.268+53C>T
NM_001135023.2:c.268+53C>T NP_001128495.1:n.268+53C>T
NM_001329791.2:c.268+53C>T NP_001316720.1:n.268+53C>T
NM_001329792.2:c.268+53C>T NP_001316721.1:n.268+53C>T
NM_001329793.2:c.268+53C>T NP_001316722.1:n.268+53C>T
NR_138131.2:n.656+53C>T
NR_138132.2:n.998+53C>T
NR_138133.2:n.561+53C>T