Canonical Allele Identifier: CA427077138

Gene: ELMOD3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85371528T>C , CM000664.2:g.85371528T>C	GRCh38
NC_000002.11:g.85598651T>C , CM000664.1:g.85598651T>C	GRCh37
NC_000002.10:g.85452162T>C	NCBI36
NG_051291.1:g.22135T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409013.8:c.573T>C MANE Select	ENSP00000387139.3:p.Leu191=
ENST00000315658.11:c.573T>C	ENSP00000318264.7:p.Leu191=
ENST00000393852.8:c.573T>C	ENSP00000377434.4:p.Leu191=
ENST00000409013.7:c.573T>C	ENSP00000387139.3:p.Leu191=
ENST00000409331.6:c.573T>C	ENSP00000386257.2:p.Leu191=
ENST00000409344.7:c.573T>C	ENSP00000386248.3:p.Leu191=
ENST00000409890.6:c.573T>C	ENSP00000386304.2:p.Leu191=
ENST00000410106.5:c.*245T>C	ENSP00000387134.1:n.*245T>C
ENST00000414593.5:c.484+319T>C	ENSP00000394774.1:n.484+319T>C
ENST00000423095.7:c.484+319T>C	ENSP00000408745.3:n.484+319T>C
ENST00000429764.5:c.253+319T>C	ENSP00000408329.1:n.253+319T>C
ENST00000444108.7:c.573T>C	ENSP00000401984.2:p.Leu191=
ENST00000446464.7:c.573T>C	ENSP00000407599.3:p.Leu191=
ENST00000488150.1:n.702T>C
ENST00000490508.5:n.785T>C
NM_001135021.1:c.573T>C	NP_001128493.1:p.Leu191=
NM_001135022.1:c.573T>C	NP_001128494.1:p.Leu191=
NM_001135023.1:c.573T>C	NP_001128495.1:p.Leu191=
NM_032213.4:c.573T>C	NP_115589.2:p.Leu191=
XM_005264596.2:c.573T>C	XP_005264653.1:p.Leu191=
XM_005264597.2:c.573T>C	XP_005264654.1:p.Leu191=
XM_005264598.2:c.573T>C	XP_005264655.1:p.Leu191=
XM_006712116.1:c.573T>C	XP_006712179.1:p.Leu191=
XR_426997.1:n.724T>C
NM_001329791.1:c.573T>C	NP_001316720.1:p.Leu191=
NM_001329792.1:c.573T>C	NP_001316721.1:p.Leu191=
NM_001329793.1:c.573T>C	NP_001316722.1:p.Leu191=
NR_138131.1:n.1010T>C
NR_138132.1:n.1263+319T>C
NR_138133.1:n.826+319T>C
XM_024453169.1:c.573T>C	XP_024308937.1:p.Leu191=
XM_024453170.1:c.573T>C	XP_024308938.1:p.Leu191=
XM_024453171.1:c.573T>C	XP_024308939.1:p.Leu191=
XM_024453172.1:c.573T>C	XP_024308940.1:p.Leu191=
XR_001738978.1:n.1054T>C
XR_001738979.1:n.959T>C
NM_001135022.2:c.573T>C MANE Select	NP_001128494.1:p.Leu191=
NM_001135021.2:c.573T>C	NP_001128493.1:p.Leu191=
NM_001135023.2:c.573T>C	NP_001128495.1:p.Leu191=
NM_001329791.2:c.573T>C	NP_001316720.1:p.Leu191=
NM_001329792.2:c.573T>C	NP_001316721.1:p.Leu191=
NM_001329793.2:c.573T>C	NP_001316722.1:p.Leu191=
NR_138131.2:n.961T>C
NR_138132.2:n.1214+319T>C
NR_138133.2:n.777+319T>C