Canonical Allele Identifier: CA51709860

Gene: ELMOD3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85390898A>T , CM000664.2:g.85390898A>T	GRCh38
NC_000002.11:g.85618021A>T , CM000664.1:g.85618021A>T	GRCh37
NC_000002.10:g.85471532A>T	NCBI36
NG_051291.1:g.41505A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409013.8:c.1082A>T MANE Select	ENSP00000387139.3:p.Asp361Val
ENST00000315658.11:c.*400A>T	ENSP00000318264.7:n.*400A>T
ENST00000393852.8:c.1082A>T	ENSP00000377434.4:p.Asp361Val
ENST00000409013.7:c.1082A>T	ENSP00000387139.3:p.Asp361Val
ENST00000409344.7:c.1082A>T	ENSP00000386248.3:p.Asp361Val
ENST00000409890.6:c.1082A>T	ENSP00000386304.2:p.Asp361Val
ENST00000410106.5:c.*754A>T	ENSP00000387134.1:n.*754A>T
ENST00000414593.5:c.*473A>T	ENSP00000394774.1:n.*473A>T
ENST00000423095.7:c.*467A>T	ENSP00000408745.3:n.*467A>T
ENST00000444108.7:c.*445A>T	ENSP00000401984.2:n.*445A>T
ENST00000446464.7:c.*939A>T	ENSP00000407599.3:n.*939A>T
ENST00000490508.5:n.1294A>T
ENST00000496957.1:n.510A>T
NM_001135021.1:c.1082A>T	NP_001128493.1:p.Asp361Val
NM_001135022.1:c.1082A>T	NP_001128494.1:p.Asp361Val
NM_001135023.1:c.1082A>T	NP_001128495.1:p.Asp361Val
NM_032213.4:c.*400A>T	NP_115589.2:n.*400A>T
XR_426997.1:n.1361A>T
NM_001329791.1:c.1082A>T	NP_001316720.1:p.Asp361Val
NM_001329792.1:c.1082A>T	NP_001316721.1:p.Asp361Val
NM_001329793.1:c.1082A>T	NP_001316722.1:p.Asp361Val
NR_138131.1:n.1726A>T
NR_138132.1:n.1738A>T
NR_138133.1:n.1429A>T
XM_024453169.1:c.*400A>T	XP_024308937.1:n.*400A>T
XM_024453170.1:c.*400A>T	XP_024308938.1:n.*400A>T
XM_024453171.1:c.*400A>T	XP_024308939.1:n.*400A>T
XM_024453172.1:c.*400A>T	XP_024308940.1:n.*400A>T
XR_001738978.1:n.1691A>T
XR_001738979.1:n.1596A>T
NM_001135022.2:c.1082A>T MANE Select	NP_001128494.1:p.Asp361Val
NM_001135021.2:c.1082A>T	NP_001128493.1:p.Asp361Val
NM_001135023.2:c.1082A>T	NP_001128495.1:p.Asp361Val
NM_001329791.2:c.1082A>T	NP_001316720.1:p.Asp361Val
NM_001329792.2:c.1082A>T	NP_001316721.1:p.Asp361Val
NM_001329793.2:c.1082A>T	NP_001316722.1:p.Asp361Val
NR_138131.2:n.1677A>T
NR_138132.2:n.1689A>T
NR_138133.2:n.1380A>T