Canonical Allele Identifier: CA7301331

Gene: EML5

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.88644457T>C , CM000676.2:g.88644457T>C	GRCh38
NC_000014.8:g.89110801T>C , CM000676.1:g.89110801T>C	GRCh37
NC_000014.7:g.88180554T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554922.6:c.4083A>G MANE Select	ENSP00000451998.1:p.Val1361=
ENST00000380664.9:c.4059A>G	ENSP00000370039.5:p.Val1353=
ENST00000553281.5:c.2847A>G
ENST00000553526.5:c.802A>G	ENSP00000450965.1:n.802A>G
ENST00000553962.1:n.281A>G
ENST00000554922.5:c.4083A>G	ENSP00000451998.1:p.Val1361=
NM_183387.2:c.4083A>G	NP_899243.1:p.Val1361=
XM_006720070.2:c.4059A>G	XP_006720133.1:p.Val1353=
XM_011536528.1:c.4083A>G	XP_011534830.1:p.Val1361=
XM_011536529.1:c.4083A>G	XP_011534831.1:p.Val1361=
XM_011536530.1:c.4074A>G	XP_011534832.1:p.Val1358=
XM_011536531.1:c.4059A>G	XP_011534833.1:p.Val1353=
XM_011536532.1:c.4083A>G	XP_011534834.1:p.Val1361=
XM_011536533.1:c.3945A>G	XP_011534835.1:p.Val1315=
XM_011536534.1:c.3906A>G	XP_011534836.1:p.Val1302=
XM_011536535.1:c.4083A>G	XP_011534837.1:p.Val1361=
XM_011536536.1:c.4083A>G	XP_011534838.1:p.Val1361=
XM_011536537.1:c.1359A>G	XP_011534839.1:p.Val453=
NM_183387.3:c.4083A>G MANE Select	NP_899243.1:p.Val1361=
XM_006720070.4:c.4059A>G	XP_006720133.1:p.Val1353=
XM_011536528.3:c.4083A>G	XP_011534830.1:p.Val1361=
XM_011536530.3:c.4074A>G	XP_011534832.1:p.Val1358=
XM_011536531.3:c.4059A>G	XP_011534833.1:p.Val1353=
XM_011536532.3:c.4083A>G	XP_011534834.1:p.Val1361=
XM_011536533.3:c.3945A>G	XP_011534835.1:p.Val1315=
XM_011536534.3:c.3906A>G	XP_011534836.1:p.Val1302=
XM_011536536.2:c.4083A>G	XP_011534838.1:p.Val1361=
XM_017021062.2:c.4083A>G	XP_016876551.1:p.Val1361=
XM_017021063.2:c.4083A>G	XP_016876552.1:p.Val1361=
XM_017021064.2:c.3969A>G	XP_016876553.1:p.Val1323=
XM_017021065.2:c.4059A>G	XP_016876554.1:p.Val1353=
XM_017021066.2:c.3915A>G	XP_016876555.1:p.Val1305=
XM_017021067.2:c.3912A>G	XP_016876556.1:p.Val1304=
XM_017021068.2:c.4083A>G	XP_016876557.1:p.Val1361=
XM_017021069.2:c.3906A>G	XP_016876558.1:p.Val1302=
XM_017021070.1:c.4083A>G	XP_016876559.1:p.Val1361=
XR_001750180.2:n.4132A>G
XR_001750181.2:n.4132A>G
XR_001750182.2:n.4132A>G
NM_001385116.1:c.4074A>G	NP_001372045.1:p.Val1358=