Canonical Allele Identifier: CA1740533

Gene: ELMOD3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85390202C>T , CM000664.2:g.85390202C>T	GRCh38
NC_000002.11:g.85617325C>T , CM000664.1:g.85617325C>T	GRCh37
NC_000002.10:g.85470836C>T	NCBI36
NG_051291.1:g.40809C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409013.8:c.880C>T MANE Select	ENSP00000387139.3:p.His294Tyr
ENST00000315658.11:c.880C>T	ENSP00000318264.7:p.His294Tyr
ENST00000393852.8:c.880C>T	ENSP00000377434.4:p.His294Tyr
ENST00000409013.7:c.880C>T	ENSP00000387139.3:p.His294Tyr
ENST00000409344.7:c.880C>T	ENSP00000386248.3:p.His294Tyr
ENST00000409890.6:c.880C>T	ENSP00000386304.2:p.His294Tyr
ENST00000410106.5:c.*552C>T	ENSP00000387134.1:n.*552C>T
ENST00000414593.5:c.*271C>T	ENSP00000394774.1:n.*271C>T
ENST00000423095.7:c.*265C>T	ENSP00000408745.3:n.*265C>T
ENST00000444108.7:c.*243C>T	ENSP00000401984.2:n.*243C>T
ENST00000446464.7:c.*243C>T	ENSP00000407599.3:n.*243C>T
ENST00000486908.1:n.345C>T
ENST00000490508.5:n.1092C>T
ENST00000496957.1:n.308C>T
NM_001135021.1:c.880C>T	NP_001128493.1:p.His294Tyr
NM_001135022.1:c.880C>T	NP_001128494.1:p.His294Tyr
NM_001135023.1:c.880C>T	NP_001128495.1:p.His294Tyr
NM_032213.4:c.880C>T	NP_115589.2:p.His294Tyr
XM_005264596.2:c.880C>T	XP_005264653.1:p.His294Tyr
XM_005264597.2:c.880C>T	XP_005264654.1:p.His294Tyr
XM_005264598.2:c.880C>T	XP_005264655.1:p.His294Tyr
XR_426997.1:n.1159C>T
XR_940315.1:n.8G>A
NM_001329791.1:c.880C>T	NP_001316720.1:p.His294Tyr
NM_001329792.1:c.880C>T	NP_001316721.1:p.His294Tyr
NM_001329793.1:c.880C>T	NP_001316722.1:p.His294Tyr
NR_138131.1:n.1524C>T
NR_138132.1:n.1536C>T
NR_138133.1:n.1227C>T
XM_024453169.1:c.880C>T	XP_024308937.1:p.His294Tyr
XM_024453170.1:c.880C>T	XP_024308938.1:p.His294Tyr
XM_024453171.1:c.880C>T	XP_024308939.1:p.His294Tyr
XM_024453172.1:c.880C>T	XP_024308940.1:p.His294Tyr
XR_001738978.1:n.1489C>T
XR_001738979.1:n.1394C>T
NM_001135022.2:c.880C>T MANE Select	NP_001128494.1:p.His294Tyr
NM_001135021.2:c.880C>T	NP_001128493.1:p.His294Tyr
NM_001135023.2:c.880C>T	NP_001128495.1:p.His294Tyr
NM_001329791.2:c.880C>T	NP_001316720.1:p.His294Tyr
NM_001329792.2:c.880C>T	NP_001316721.1:p.His294Tyr
NM_001329793.2:c.880C>T	NP_001316722.1:p.His294Tyr
NR_138131.2:n.1475C>T
NR_138132.2:n.1487C>T
NR_138133.2:n.1178C>T